KIT NM_000222.2:c.2485G C

Preferred Label : KIT NM_000222.2:c.2485G C;

NCIt synonyms : NM_000222.2:c.2485G C; c-KIT c.2485G C; CD117 c.2485G C; KIT c.2485G C; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.2485G C; KIT Proto-Oncogene Tyrosine Protein Kinase c.2485G C;

NCIt definition : A nucleotide substitution at position 2485 of the coding sequence of the KIT gene where guanine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL556307;

SNP ID : rs1057519713;

Details

Origin ID

C155709;

UMLS CUI

C4744342;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- KIT NP_000213.1:p.A829P [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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