Product Details

SNP ID
rs200652594
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10486774 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCTCCAGGTGTCTGTATCTGGGT[C/T]GTAACACTCCACACTGTCCAGGAAC
Phenotype
MIM: 606016
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KEAP1 PubMed Links

Gene Details

Gene
KEAP1
Gene Name
kelch like ECH associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012289.3 2077 Missense Mutation AAC,GAC N585D NP_036421.2
NM_203500.1 2077 Missense Mutation AAC,GAC N585D NP_987096.1
XM_005260173.1 2077 Missense Mutation AAC,GAC N585D XP_005260230.1
XM_005260174.1 2077 Missense Mutation AAC,GAC N585D XP_005260231.1
XM_011528452.1 2077 Missense Mutation AAC,GAC N585D XP_011526754.1

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