Product Details

SNP ID
rs117263218
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:70156611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGGTGGGGAGAGCCCATTTACC[A/G]GAATGGGCAGTATGTTGGCAAGACC
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC400541 PubMed Links

Gene Details

Gene
LOC400541
Gene Name
uncharacterized LOC400541
There are no transcripts associated with this gene.

Gene
PDPR
Gene Name
pyruvate dehydrogenase phosphatase regulatory subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322117.1 2979 Missense Mutation CAG,CGG Q791R NP_001309046.1
NM_001322118.1 2979 Missense Mutation CAG,CGG Q691R NP_001309047.1
NM_001322119.1 2979 Missense Mutation CAG,CGG Q389R NP_001309048.1
NM_017990.4 2979 Missense Mutation CAG,CGG Q791R NP_060460.4
XM_005256015.2 2979 Missense Mutation CAG,CGG Q791R XP_005256072.1
XM_005256016.3 2979 Missense Mutation CAG,CGG Q791R XP_005256073.1
XM_006721224.2 2979 Missense Mutation CAG,CGG Q730R XP_006721287.1
XM_006721225.3 2979 Intron XP_006721288.1
XM_011523190.2 2979 Intron XP_011521492.1
XM_017023387.1 2979 Missense Mutation CAG,CGG Q791R XP_016878876.1
XM_017023388.1 2979 Intron XP_016878877.1
XM_017023389.1 2979 Intron XP_016878878.1

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