Product Details

SNP ID
rs149083818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:19349989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCTCCTGTCACAACAGTGCTCA[C/G]CAGGGAGGATGGGCTCAAATACTAC
Phenotype
MIM: 300502
Polymorphism
C/G, Transversion 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_000284.3 429 Missense Mutation ACC,AGC T57S NP_000275.1
NM_001173454.1 429 Missense Mutation ACC,AGC T95S NP_001166925.1
NM_001173455.1 429 Missense Mutation ACC,AGC T57S NP_001166926.1
NM_001173456.1 429 Missense Mutation ACC,AGC T57S NP_001166927.1
XM_017029574.1 429 Missense Mutation ACC,AGC T95S XP_016885063.1

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