Product Details

SNP ID
rs147628793
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:107891266 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCGGAAAAATGCAGAGCTGGAGT[C/T]GTGTGTACTGCTCCTTGGCCAAGGT
Phenotype
MIM: 238331
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DLD PubMed Links

Gene Details

Gene
DLD
Gene Name
dihydrolipoamide dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000108.4 160 Missense Mutation CGT,TGT R6C NP_000099.2
NM_001289750.1 160 UTR 5 NP_001276679.1
NM_001289751.1 160 Missense Mutation CGT,TGT R6C NP_001276680.1
NM_001289752.1 160 Missense Mutation CGT,TGT R6C NP_001276681.1

View Full Product Details