Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTAGCTCAGGGATGCTGTAGCCTGC[C/T]GTGCTGATGCGGTCAAAGAGTTGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604095 MIM: 601181 | ||||||||||||||||||||
Literature Links: |
EDAR PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor 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 |
EDAR - ectodysplasin A receptor | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022336.3 | 1499 | Silent Mutation | ACA,ACG | T,T 403 | NP_071731.1 | |
XM_006712204.1 | 1499 | Silent Mutation | ACA,ACG | T,T 435 | XP_006712267.1 | |
XM_011510502.2 | 1499 | Silent Mutation | ACA,ACG | T,T 483 | XP_011508804.2 | |
XM_011510503.2 | 1499 | Silent Mutation | ACA,ACG | T,T 451 | XP_011508805.2 |
RANBP2 - RAN binding protein 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006267.4 | 1499 | Intron | NP_006258.3 | |||
XM_005264002.2 | 1499 | Intron | XP_005264059.1 | |||
XM_005264003.2 | 1499 | Intron | XP_005264060.1 | |||
XM_005264004.2 | 1499 | Intron | XP_005264061.1 | |||
XM_005264005.4 | 1499 | Intron | XP_005264062.1 | |||
XM_005264007.2 | 1499 | Intron | XP_005264064.1 | |||
XM_011511575.2 | 1499 | Intron | XP_011509877.1 | |||
XM_011511576.2 | 1499 | Intron | XP_011509878.1 | |||
XM_011511578.2 | 1499 | Intron | XP_011509880.1 | |||
XM_017004623.1 | 1499 | Intron | XP_016860112.1 | |||
XM_017004624.1 | 1499 | Intron | XP_016860113.1 | |||
XM_017004625.1 | 1499 | Intron | XP_016860114.1 |