KIT NM_000222.2:c.2554G A

Preferred Label : KIT NM_000222.2:c.2554G A;

NCIt synonyms : CD117 c.2554G A; KIT c.2554G A; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.2554G A; KIT Proto-Oncogene Tyrosine Protein Kinase c.2554G A; c-KIT c.2554G A; NM_000222.2:c.2554G A;

NCIt definition : A nucleotide substitution at position 2554 of the coding sequence of the KIT gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL556322;

SNP ID : rs555650901;

Details

Origin ID

C155720;

UMLS CUI

C4745305;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- KIT NP_000213.1:p.V852I [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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