Product Details

SNP ID
rs147651089
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:10722939 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAATACTGTAACCTCCAAGTCCAA[A/C]CTGTCTTATAATACCAAATTCGCTA
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ATP6V1C2 PubMed Links

Gene Details

Gene
ATP6V1C2
Gene Name
ATPase H+ transporting V1 subunit C2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039362.1 199 Missense Mutation AAA,AAC K30N NP_001034451.1
NM_144583.3 199 Missense Mutation AAA,AAC K30N NP_653184.2
XM_011510339.2 199 Missense Mutation AAA,AAC K30N XP_011508641.1
XM_011510340.2 199 Missense Mutation AAA,AAC K30N XP_011508642.1
XM_011510341.2 199 Missense Mutation AAA,AAC K30N XP_011508643.1
XM_017003745.1 199 Missense Mutation AAA,AAC K30N XP_016859234.1

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