Product Details

SNP ID
rs147057951
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:67438160 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGCTCTGGGAGCGACCCACAGAA[G/T]GGAGAGGAGGCTCAAACTGCCCCCA
Phenotype
MIM: 607028 MIM: 614232
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ATP6V0D1 PubMed Links

Gene Details

Gene
ATP6V0D1
Gene Name
ATPase H+ transporting V0 subunit d1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004691.4 1416 UTR 3 NP_004682.2
XM_011523444.1 1416 UTR 3 XP_011521746.1
XM_011523445.1 1416 UTR 3 XP_011521747.1
XM_011523446.1 1416 UTR 3 XP_011521748.1
Gene
HSD11B2
Gene Name
hydroxysteroid 11-beta dehydrogenase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000196.3 1416 Intron NP_000187.3

View Full Product Details