Product Details

SNP ID
rs71584837
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6462840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTTTCTTCCAGCTCTTCAGTCCC[A/G]CCCTTGGGCAGGACGAAGGGAATGT
Phenotype
MIM: 607081 MIM: 185880
Polymorphism
A/G, 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 2758 Intron NP_060479.3
XM_005253700.3 2758 Intron XP_005253757.1
XM_017019545.1 2758 Intron XP_016875034.1
XM_017019546.1 2758 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 2758 UTR 3 NP_001284367.1
NM_014231.4 2758 UTR 3 NP_055046.1
NM_016830.3 2758 Missense Mutation CGG,TGG R115W NP_058439.1
NM_199245.2 2758 UTR 3 NP_954740.1

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