Product Details

SNP ID
rs199983136
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:58428158 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAGTGACACGAACAGCAGGAGCA[A/T]CCAGGAAATTGAACGCAGGACCTAG
Phenotype
MIM: 179060 MIM: 611450
Polymorphism
A/T, Transversion 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_000925.3 945 Missense Mutation GAT,GTT D319V NP_000916.2
NM_001173468.1 945 Missense Mutation GAT,GTT D301V NP_001166939.1
NM_001315536.1 945 Missense Mutation GAT,GTT D301V 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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