Product Details

SNP ID
rs141083080
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:60768494 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACCTCCCACCTTCTGTTGTGGCT[A/C]CTGTTGGTGGTAAAATTTTCACATT
Phenotype
MIM: 616865
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PAPOLG PubMed Links

Gene Details

Gene
PAPOLG
Gene Name
poly(A) polymerase gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022894.3 494 Missense Mutation ACT,CCT T91P NP_075045.2
XM_005264500.3 494 Missense Mutation ACT,CCT T91P XP_005264557.1
XM_005264501.1 494 Missense Mutation ACT,CCT T47P XP_005264558.1
XM_011533041.1 494 UTR 5 XP_011531343.1
XM_017004723.1 494 UTR 5 XP_016860212.1
XM_017004724.1 494 UTR 5 XP_016860213.1

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