Product Details

SNP ID
rs112148478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:95840561 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGATCCATTCTCGCAGAGCTGAC[A/G]GGAAGAAGAGGAGGTTGTGCTAAAG
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_005390.4 474 Silent Mutation ACA,ACG T137T NP_005381.1

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