Product Details

SNP ID
rs149726934
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6464886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCCACCAGCAACTTCAGCGATAC[C/T]TACTTACAATAACTACCACGATGAT
Phenotype
MIM: 607081 MIM: 185880
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TAPBPL PubMed Links

Gene Details

Gene
TAPBPL
Gene Name
TAP binding protein like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018009.4 712 Intron NP_060479.3
XM_005253700.3 712 Intron XP_005253757.1
XM_017019545.1 712 Intron XP_016875034.1
XM_017019546.1 712 Intron XP_016875035.1
Gene
VAMP1
Gene Name
vesicle associated membrane protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297438.1 712 Intron NP_001284367.1
NM_014231.4 712 Intron NP_055046.1
NM_016830.3 712 Intron NP_058439.1
NM_199245.2 712 Missense Mutation AAG,AGG K115R NP_954740.1

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