JAK2 NM_004972.3:c.2624C A

Preferred Label : JAK2 NM_004972.3:c.2624C A;

NCIt synonyms : JAK-2 c.2624C A; JAK2 c.2624C A; JTK10 c.2624C A; Janus Kinase 2 c.2624C A; NM_004972.3:c.2624C A;

NCIt definition : A nucleotide substitution at position 2624 of the coding sequence of the JAK2 gene where cytosine has been mutated to adenine.;

NCIt note : This JAK2 point mutation encodes a constitutively activated protein kinase and is associated with acute megakaryoblastic leukemia. (Blood. 2006; 108:2770-9.);

SNP ID : rs1057520016;

PubMed : 16804112;

Details

Origin ID

C116965;

UMLS CUI

C3898661;

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]
gene_mutant_encodes_gene_product_sequence_variation
- JAK2 NP_004963.1:p.T875N [NCIt concept]
- JAK2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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