Product Details

SNP ID
rs138693600
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:198523432 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTTCACATGGATTTCTGGTTTCA[C/T]GTCACAGACCATGCTCAAGAGCTGG
Phenotype
Polymorphism
C/T, Transition 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_001320218.1 452 Missense Mutation ATG,GTG M112V NP_001307147.1
NM_133262.2 452 Missense Mutation ATG,GTG M106V NP_573569.1
NM_133326.1 452 UTR 3 NP_579872.1
XM_006711163.3 452 Missense Mutation ATG,GTG M106V XP_006711226.1
XM_011509186.2 452 Missense Mutation ATG,GTG M112V XP_011507488.1
XM_011509187.2 452 UTR 3 XP_011507489.1

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