Assay Details

Gene Information

ILKAP
	Accession	Protein	COSMIC ID	Mutation	AA
RefSeq	NM_030768.2	NP_110395.1	4092740	c.820G>A	p.A274T
			6685571	c.728G>A	p.R243H
			6273497	c.771C>A	p.S257R
			5396592	c.729T>G	p.R243R
			7203568	c.735T>G	p.N245K
			7203653	c.730T>C	p.Y244H
			3426269	c.831C>T	p.N277N
			5509891	c.750A>T	p.K250N
			6453420	c.720C>G	p.I240M
			1018532	c.832G>A	p.V278I
			1018533	c.814C>T	p.Q272*
			6510786	c.736G>T	p.E246*
			75007	c.723G>C	p.L241F
	XM_005246106.1	XP_005246163.1	-	-	-
	XM_006712784.1	XP_006712847.1	-	-	-
	XM_011511946.2	XP_011510248.1	-	-	-
	XM_017005056.1	XP_016860545.1	-	-	-
	XM_017005057.1	XP_016860546.1	-	-	-
	XM_017005058.1	XP_016860547.1	-	-	-
GenBank	AK001043.1		-	-	-
	AK055417.1		-	-	-
	AL136850.1	CAB66784.1	-	-	-
	AY024365.1	AAK07736.1	-	-	-
	BC006576.2	AAH06576.1	-	-	-
	BC035746.1		-	-	-
	BC050422.1		-	-	-
	CR533533.1	CAG38564.1	-	-	-
	ENST00000254654.0		-	-	-
	FJ491380.1		-	-	-
	FJ491381.1		-	-	-
	HQ658059.1		-	-	-
	HQ658060.1		-	-	-

Phenotype

Literature Links:

ILKAP PubMed Links

SNP ID

rs765063247 rs762844467 rs376465428 rs371875970 rs772319438 rs756647006 rs377708741 rs887865032 rs528324507 rs749645996 rs751091408 rs779346608 rs529266962 rs776849011 rs752640785 rs1047759693 rs762475786 rs563963597 rs759259228 rs546496774 rs201992635 rs901058253 rs756715843 rs780773486 rs200118644 rs200293852 rs201590852 rs756878968 rs191155817 rs928522132 rs1050923859 rs760791474 rs773406326 rs199619868 rs766220207 rs780631845 rs11555870

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182145-238182145 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182160-238182160 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182022-238182022 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182212-238182212 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182067-238182067 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182024-238182024 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182200-238182200 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182120-238182120 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182005-238182005 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182043-238182043 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182198-238182198 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182056-238182056 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182060-238182060 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182097-238182097 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182148-238182148 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182101-238182101 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182192-238182193 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182004-238182004 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182100-238182100 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182055-238182055 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182020-238182020 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182202-238182202 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182210-238182210 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182039-238182039 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182028-238182028 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182057-238182057 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global C (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182159-238182159 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182032-238182032 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182194-238182194 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182076-238182076 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182040-238182040 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182079-238182079 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182070-238182070 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182082-238182082 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182207-238182208 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182156-238182156 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.2: 238182123-238182123 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

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