IDH2 NM_002168.3:c.514A T

Preferred Label : IDH2 NM_002168.3:c.514A T;

NCIt synonyms : IDH c.514A T; NM_002168.3:c.514A T; Isocitrate Dehydrogenase 2 (NADP ), Mitochondrial c.514A T; IDH2 c.514A T; Isocitrate Dehydrogenase (NADP( )) 2, Mitochondrial c.514A T;

NCIt definition : A nucleotide substitution at position 514 of the coding sequence of the IDH2 gene where adenine has been mutated to thymine.;

NCI Metathesaurus CUI : CL538484;

SNP ID : rs1057519906;

Details

Origin ID

C140415;

UMLS CUI

C4682931;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- IDH2 NP_002159.2:p.R172W [NCIt concept]
- IDH2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- IDH Gene Family [NCIt concept]
- IDH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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