Product Details

SNP ID

rs879019512

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:60768500 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACCTTCTGTTGTGGCTACTGTT[G/T]GTGGTAAAATTTTCACATTTGGATC

Phenotype

MIM: 616865

Polymorphism

G/T, 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	526	Missense Mutation	GGT,TGT	G93C	NP_075045.2

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