KIT NM_000222.2:c.2447A T

Preferred Label : KIT NM_000222.2:c.2447A T;

NCIt synonyms : c-KIT c.2447A T; NM_000222.2:c.2447A T; CD117 c.2447A T; KIT c.2447A T; V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.2447A T; KIT Proto-Oncogene Tyrosine Protein Kinase c.2447A T;

NCIt definition : A nucleotide substitution at position 2447 of the coding sequence of the KIT gene where adenine has been mutated to thymine.;

NCI Metathesaurus CUI : CL374082;

SNP ID : rs121913507;

Details

Origin ID

C126818;

UMLS CUI

C4288860;

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
- KIT NP_000213.1:p.D816V [NCIt concept]
- KIT Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- KIT Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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