Product Details

SNP ID

rs180954746

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:30313885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACAAATTTTTGCAGCTGGCTTTG[A/G]CTTACATTTTTGCTTATGTTGAGAG

Phenotype

MIM: 613669

Polymorphism

A/G, Transition 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	1536	Silent Mutation	AGC,AGT	S491S	NP_060579.3

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