Product Details

SNP ID
rs145291469
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:60760248 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTACACACAGAAATTAATTGACGC[C/T]ATGAAACCATTTGGAGTGTTTGAAG
Phenotype
MIM: 616865
Polymorphism
C/T, Transition 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_022894.3 355 Silent Mutation GCC,GCT A44A NP_075045.2
XM_005264500.3 355 Silent Mutation GCC,GCT A44A XP_005264557.1
XM_005264501.1 355 UTR 5 XP_005264558.1
XM_011533041.1 355 UTR 5 XP_011531343.1
XM_017004723.1 355 UTR 5 XP_016860212.1
XM_017004724.1 355 UTR 5 XP_016860213.1

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