JAK2 NM_004972.3:c.2047A G

Preferred Label : JAK2 NM_004972.3:c.2047A G;

NCIt synonyms : JAK2 c.2047A G; Janus Kinase 2 c.2047A G; JTK10 c.2047A G; JAK-2 c.2047A G; NM_004972.3:c.2047A G;

NCIt definition : A nucleotide substitution at position 2047 of the coding sequence of the JAK2 gene where adenine has been mutated to guanine.;

NCI Metathesaurus CUI : CL979184;

SNP ID : rs1057519721;

Details

Origin ID

C166159;

UMLS CUI

C5239518;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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