PDGFRA NM_006206.4:c.2525A T

Preferred Label : PDGFRA NM_006206.4:c.2525A T;

NCIt synonyms : NM_006206.4:c.2525A T; Platelet-Derived Growth Factor Receptor, Alpha Polypeptide c.2525A T; RHEPDGFRA c.2525A T; PDGFR2 c.2525A T; CD140A c.2525A T; PDGFRA c.2525A T; PDGFR-2 c.2525A T;

NCIt definition : A nucleotide substitution at position 2525 of the coding sequence of the PDGFRA gene where adenine has been mutated to thymine.;

SNP ID : rs121908585;

Details

Origin ID

C107568;

UMLS CUI

C3828627;

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
- PDGFRA NP_006197.1:p.D842V [NCIt concept]
- PDGFRA Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- PDGFRA Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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