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Gene Symbol:
KEAP1
Entrez Gene ID
9817
Gene Name:
kelch like ECH associated protein 1
Gene Aliases
INrf2, KLHL19
Gene Chromosome Location
Chr.19: on Build GRCh38
UniGene
Hs.465870
Species:
Human
Primer Chromosome Location
Chr.19: 10499607-10499876 on Build GRCh38
Amplicon Length
270
Primer Sequences
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Ampliseq ID's
Primer ID Hs00743195_CE
Primer 5'-tail Option
Purification
Primer Pair /FWD/REV
Synthesis Scale 25 nmol
Availability Made To Order
Catalog #'s A15629,A15630
Price (USD) USD 16.46,USD 16.46

Genomic Map

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Assay Details

Gene Information


KEAP1
Accession Protein COSMIC ID Mutation AA
RefSeq NM_012289.3 NP_036421.2 398498 c.287A>T p.H96L
6524626 c.282G>T p.M94I
6934671 c.323delA p.K108fs*49
1611495 c.187G>A p.A63T
6951358 c.188C>T p.A63V
3959487 c.218G>T p.S73I
7329043 c.367G>A p.V123M
710186 c.223C>T p.Q75*
4653017 c.399G>A p.M133I
6196628 c.246G>T p.Q82H
5794003 c.175C>T p.H59Y
6524628 c.235G>T p.V79F
1136093 c.160T>G p.Y54D
6955934 c.205G>T p.E69*
6925008 c.287A>G p.H96R
7340616 c.182delA p.K61fs*7
2812646 c.289A>T p.K97*
6149745 c.349G>A p.E117K
5550782 c.284C>T p.A95V
474129 c.315T>C p.P105P
2812642 c.427G>C p.A143P
6149743 c.299T>C p.L100P
6968181 c.188C>A p.A63D
6579953 c.328A>C p.M110L
6967929 c.361G>T p.E121*
6978486 c.380G>C p.G127A
6919698 c.245A>C p.Q82P
6944731 c.399_400insA p.E134fs*5
6083858 c.328A>G p.M110V
6958217 c.308C>T p.S103F
6944122 c.395T>G p.V132G
3796565 c.347G>C p.R116P
4922491 c.312C>A p.S104R
6454273 c.218G>A p.S73N
337518 c.330G>A p.M110I
5614595 c.288C>G p.H96Q
4941180 c.410T>C p.I137T
6083860 c.417C>A p.F139L
94574 c.422A>G p.Y141C
6971184 c.283delG p.A95fs*62
4951265 c.212G>A p.R71Q
6913062 c.244C>T p.Q82*
3528285 c.389C>T p.P130L
6912430 c.411_423>GG p.I137fs*33
6948781 c.330G>T p.M110I
6524627 c.247G>T p.V83F
6964902 c.373A>T p.I125F
6524625 c.283G>T p.A95S
1172563 c.413A>C p.E138A
6149742 c.291G>T p.K97N
6915445 c.293T>G p.V98G
5791857 c.158G>T p.S53I
6925190 c.201G>T p.M67I
2812647 c.271G>A p.A91T
6557467 c.232G>A p.D78N
6438115 c.380G>A p.G127D
1725916 c.340G>T p.G114W
2812643 c.404G>T p.R135L
6149744 c.305C>T p.S102L
990608 c.283G>A p.A95T
4073871 c.285C>A p.A95A
6917923 c.351G>T p.E117D
269429 c.373A>G p.I125V
6438153 c.203A>G p.N68S
4890280 c.417C>T p.F139F
378705 c.212G>T p.R71L
6083859 c.367G>T p.V123L
6196642 c.319T>C p.F107L
6980310 c.424A>G p.T142A
380449 c.422A>T p.Y141F
6083857 c.295G>T p.V99L
6980073 c.412G>T p.E138*
7373397 c.391A>T p.K131*
6927769 c.169G>T p.E57*
6305573 c.243G>C p.L81L
4073872 c.234C>T p.D78D
6982240 c.349G>T p.E117*
6910166 c.295G>A p.V99M
328699 c.314delC p.P105fs*52
6948780 c.334A>T p.T112S
7226843 c.313C>T p.P105S
6984131 c.166delC p.L56fs*12
564829 c.425C>T p.T142M
6970908 c.388C>A p.P130T
1524051 c.346C>T p.R116W
3378602 c.271G>T p.A91S
95977 c.246G>A p.Q82Q
4987166 c.247G>A p.V83I
6933024 c.398T>G p.M133R
94575 c.161A>G p.Y54C
4433833 c.403C>T p.R135C
NM_203500.1 NP_987096.1 - - -
XM_005260173.1 XP_005260230.1 - - -
XM_005260174.1 XP_005260231.1 - - -
XM_011528452.1 XP_011526754.1 - - -
GenBank AF361886.1 AAK51082.1 - - -
AK056204.1 - - -
AU130822.1 - - -
BC002417.2 AAH02417.1 - - -
BC002930.1 AAH02930.1 - - -
BC015945.1 AAH15945.1 - - -
D50922.2 - - -
ENST00000393623.0 - - -


Phenotype

MIM: 606016

Literature Links:

KEAP1 PubMed Links

SNP ID

rs372437795 rs777675307 rs1048285 rs771031347 rs886596204 rs534308325 rs552845555 rs375868044 rs762978876 rs771599341 rs970670762 rs749143495 rs770882251 rs780558147 rs368450352 rs944850671 rs145920707 rs989656106 rs541663797 rs759047759 rs777680192 rs753515026 rs1040448829 rs752035573 rs773711133 rs774932705 rs202181679 rs770205972 rs957879394 rs758883515 rs766942309 rs752336790 rs1006739664 rs377493095 rs759406594

Submission count

NA

Allele Nomenclature



Chromosome Location

Chr.19: 10499787-10499787 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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