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See other KEAP1 GT Assays ›
SNP ID:
rs1048290
Gene
KEAP1
Gene Name
Set Membership:
> HapMap > Validated
Chromosome Location:
Chr.19: 10489766 - 10489766 on Build GRCh38
Polymorphism:
C/G, Transversion substitution
Context Sequence [VIC/FAM]:

CGTCAAAGCCCCCCACGGCATAAAG[C/G]AGACGATTGAGGACAGCCACGCCCA

Assay ID C___9323035_1_
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 606016

Literature Links:

 KEAP1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
C (0.49)
(0.51)
Caucasian
C (0.41)
(0.59)
CEPH (CEU)
C (0.33)
(0.67)
EAS
C (0.47)
(0.53)
African American
G (0.30)
(0.70)
YRI (Yoruba)
G (0.22)
(0.78)
SAS
C (0.46)
(0.54)
Chinese - Not Available JPT (Japanese)
C (0.48)
(0.52)
AFR
C (0.25)
(0.75)
Japanese - Not Available CHB (Han Chinese)
G (0.44)
(0.56)
EUR
G (0.36)
(0.64)
AMR
G (0.30)
(0.70)
KEAP1 - kelch like ECH associated protein 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_012289.3 1737 Silent Mutation CTC,CTG L,L 471 NP_036421.2
NM_203500.1 1737 Silent Mutation CTC,CTG L,L 471 NP_987096.1
XM_005260173.1 1737 Silent Mutation CTC,CTG L,L 471 XP_005260230.1
XM_005260174.1 1737 Silent Mutation CTC,CTG L,L 471 XP_005260231.1
XM_011528452.1 1737 Silent Mutation CTC,CTG L,L 471 XP_011526754.1

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