Product Details

SNP ID

rs201543113

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:95840187 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCATCTCCCGCGTGTTGAGGCGA[A/G]TTGCCCAGAAATCAGCTCGCAGAGT

Phenotype

MIM: 179061

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PDHA2 PubMed Links

Gene Details

Gene

PDHA2

Gene Name

pyruvate dehydrogenase (lipoamide) alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005390.4	100	Missense Mutation	ATT,GTT	I13V	NP_005381.1

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