Product Details

SNP ID

rs199956765

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:30313825 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGGAAGGTCGATCTGTATCTTC[C/G]TGTTGTAAAATCCAGGCACTTTCTC

Phenotype

MIM: 613669

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MTPAP PubMed Links

Gene Details

Gene

MTPAP

Gene Name

mitochondrial poly(A) polymerase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018109.3	1596	Missense Mutation	CAC,CAG	H511Q	NP_060579.3

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