Product Details

SNP ID
rs191765528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:107891278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAGCTGGAGTCGTGTGTACTGC[C/T]CCTTGGCCAAGGTGAGGGCCGAGTA
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_000108.4 172 Missense Mutation CCC,TCC P10S NP_000099.2
NM_001289750.1 172 UTR 5 NP_001276679.1
NM_001289751.1 172 Missense Mutation CCC,TCC P10S NP_001276680.1
NM_001289752.1 172 Missense Mutation CCC,TCC P10S NP_001276681.1

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