Product Details

SNP ID
rs7883320
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:19346526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTACTAGAGACATGGTCTTGCTA[C/T]GTTGCCCAGTCTGGTCTCCATCTCC
Phenotype
MIM: 300502
Polymorphism
C/T, 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_000284.3 219 Intron NP_000275.1
NM_001173454.1 219 Missense Mutation ACG,ATG T25M NP_001166925.1
NM_001173455.1 219 Intron NP_001166926.1
NM_001173456.1 219 Intron NP_001166927.1
XM_017029574.1 219 Missense Mutation ACG,ATG T25M XP_016885063.1

View Full Product Details