PIK3CA NM_006218.1:c.3139C T

Preferred Label : PIK3CA NM_006218.1:c.3139C T;

NCIt synonyms : Phosphoinositide-3-Kinase, Catalytic, Alpha Polypeptide c.3139C T; PI3K c.3139C T; p110-alpha c.3139C T; PIK3CA c.3139C T; NM_006218.1:c.3139C T;

NCIt definition : A nucleotide substitution at position 3139 of the coding sequence of the PIK3CA gene where cytosine has been mutated to thymine.;

SNP ID : rs121913281;

Details

Origin ID

C98488;

UMLS CUI

C3274179;

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
- PIK3CA NP_006209.2:p.H1047Y [NCIt concept]
- PIK3CA Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- PIK3CA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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