PKLR NM_000298.5:c.1436G A

Preferred Label : PKLR NM_000298.5:c.1436G A;

NCIt synonyms : PKRL c.1436G A; Pyruvate Kinase, Liver and RBC Gene c.1436G A; PKR c.1436G A; PKLR c.1436G A; RPK c.1436G A; Pyruvate Kinase L/R Gene c.1436G A; PK1 c.1436G A; NM_000298.5:c.1436G A; PKL c.1436G A;

NCIt definition : A nucleotide substitution at position 1436 of the coding sequence of the PKLR gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL937584;

SNP ID : rs118204085;

Details

Origin ID

C158051;

UMLS CUI

C4764011;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- PKLR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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