Product Details

SNP ID
rs58613453
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:10784567 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTAACACTGGAAGCCACTTGAAC[A/G]TGTCCTTTTGAGGAGGGTGGGACAC
Phenotype
MIM: 611099
Polymorphism
A/G, Transition 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 2559 UTR 3 NP_001034451.1
NM_144583.3 2559 UTR 3 NP_653184.2
XM_011510339.2 2559 Intron XP_011508641.1
XM_011510340.2 2559 Intron XP_011508642.1
XM_011510341.2 2559 Intron XP_011508643.1
XM_017003745.1 2559 Intron XP_016859234.1
Gene
PDIA6
Gene Name
protein disulfide isomerase family A member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282704.1 2559 Intron NP_001269633.1
NM_001282705.1 2559 Intron NP_001269634.1
NM_001282706.1 2559 Intron NP_001269635.1
NM_001282707.1 2559 Intron NP_001269636.1
NM_005742.3 2559 Intron NP_005733.1
XM_011510308.1 2559 Intron XP_011508610.1

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