Product Details

SNP ID

rs140695896

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:95840172 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATATGCTGGCCGCCTTCATCTCC[C/T]GCGTGTTGAGGCGAGTTGCCCAGAA

Phenotype

MIM: 179061

Polymorphism

C/T, 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	85	Missense Mutation	CGC,TGC	R8C	NP_005381.1

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