Product Details

SNP ID
rs28933391
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:58428084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAATATGATGTCTTTGACCTGAG[A/G]TATAGAGTTGTCCTCTAGAATCTTT
Phenotype
MIM: 179060 MIM: 611450
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDHB PubMed Links

Gene Details

Gene
PDHB
Gene Name
pyruvate dehydrogenase (lipoamide) beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000925.3 1019 Missense Mutation CCT,TCT P344S NP_000916.2
NM_001173468.1 1019 Missense Mutation CCT,TCT P326S NP_001166939.1
NM_001315536.1 1019 Missense Mutation CCT,TCT P326S NP_001302465.1
Gene
PXK
Gene Name
PX domain containing serine/threonine kinase like
There are no transcripts associated with this gene.

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