Product Details

SNP ID
rs144038427
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:107893215 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTTCTAGAGAGGCCATTTCAAT[C/G]GAATATCTCATGGCCTACAGGGACT
Phenotype
MIM: 238331
Polymorphism
C/G, Transversion 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_000108.4 199 Missense Mutation CGA,GGA R19G NP_000099.2
NM_001289750.1 199 UTR 5 NP_001276679.1
NM_001289751.1 199 Missense Mutation CGA,GGA R19G NP_001276680.1
NM_001289752.1 199 Missense Mutation CGA,GGA R19G NP_001276681.1

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