Product Details

SNP ID
rs143795532
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:198523454 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGTCACAGACCATGCTCAAGAG[A/C]TGGTTCATCACACTTTCCATATACT
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ATP6V1G3 PubMed Links

Gene Details

Gene
ATP6V1G3
Gene Name
ATPase H+ transporting V1 subunit G3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320218.1 430 Missense Mutation CAG,CAT Q104H NP_001307147.1
NM_133262.2 430 Missense Mutation CAG,CAT Q98H NP_573569.1
NM_133326.1 430 UTR 3 NP_579872.1
XM_006711163.3 430 Missense Mutation CAG,CAT Q98H XP_006711226.1
XM_011509186.2 430 Missense Mutation CAG,CAT Q104H XP_011507488.1
XM_011509187.2 430 UTR 3 XP_011507489.1

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