Product Details

SNP ID
rs145749914
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:19346576 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCTCAAGCAGTCCTCCCACCTC[A/G]GCCTCCCAAAGTGCTGGGATTACTC
Phenotype
MIM: 300502
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDHA1 PubMed Links

Gene Details

Gene
PDHA1
Gene Name
pyruvate dehydrogenase (lipoamide) alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000284.3 269 Intron NP_000275.1
NM_001173454.1 269 Missense Mutation AGC,GGC S42G NP_001166925.1
NM_001173455.1 269 Intron NP_001166926.1
NM_001173456.1 269 Intron NP_001166927.1
XM_017029574.1 269 Missense Mutation AGC,GGC S42G XP_016885063.1

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