Product Details

SNP ID
rs2230445
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:44624507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCCTTTCTCAGTGGGACTAGTT[C/T]GAACTATGTGGAGGAGATGTACTGT
Phenotype
MIM: 613022
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OGDH PubMed Links

Gene Details

Gene
OGDH
Gene Name
oxoglutarate dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003941.2 255 Missense Mutation TCG,TTG S55L NP_001003941.1
NM_001165036.1 255 Missense Mutation TCG,TTG S55L NP_001158508.1
NM_002541.3 255 Missense Mutation TCG,TTG S55L NP_002532.2
XM_005249759.4 255 Missense Mutation TCG,TTG S55L XP_005249816.1
XM_005249761.3 255 Missense Mutation TCG,TTG S55L XP_005249818.1
XM_011515408.2 255 Missense Mutation TCG,TTG S55L XP_011513710.1

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