JAK2 NM_004972.3:c.1849G T

Preferred Label : JAK2 NM_004972.3:c.1849G T;

NCIt synonyms : NM_004972.3:c.1849G T; JAK-2 c.1849G T; JAK2 c.1849G T; Janus Kinase 2 c.1849G T; JTK10 c.1849G T;

NCIt definition : A nucleotide substitution at position 1849 of the coding sequence of the JAK2 gene where guanine has been mutated to thymine.;

SNP ID : rs77375493;

Details

Origin ID

C105910;

UMLS CUI

C3829478;

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.V617F [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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