NCSTN NP_056146.1:p.A572G

Preferred Label : NCSTN NP_056146.1:p.A572G;

NCIt synonyms : NCSTN A572G; NCSTN Ala572Gly; NCSTN p.A572G; NCSTN p.Ala572Gly; Nicastrin A572G; Nicastrin Ala572Gly; NCSTN NP_056146.1:p.Ala572Gly; NP_056146.1:p.A572G; NP_056146.1:p.Ala572Gly;

NCIt definition : A change in the amino acid residue at position 572 in the nicastrin protein where alanine has been replaced by glycine.;

NCI Metathesaurus CUI : CL971665;

PubMed : 31026031;

Details

Origin ID

C166413;

UMLS CUI

C5237967;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- Nicastrin [NCIt concept]
molecular_abnormality_involves_gene
- NCSTN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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