Preferred Label : IDH2 NM_002168.3:c.515G A;
NCIt synonyms : IDH c.515G A; NM_002168.3:c.515G A; Isocitrate Dehydrogenase 2 (NADP ), Mitochondrial c.515G A; IDH2 c.515G A; Isocitrate Dehydrogenase (NADP( )) 2, Mitochondrial c.515G A;
NCIt related terms : G515A;
NCIt definition : A nucleotide substitution at position 515 of the coding sequence of the IDH2 gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL513470;
SNP ID : rs121913503;
Origin ID : C131110;
UMLS CUI : C4330394;
Semantic type(s)
gene_mutant_encodes_gene_product_sequence_variation
molecular_abnormality_involves_gene