GNAS NM_000516.5:c.602G A

Preferred Label : GNAS NM_000516.5:c.602G A;

NCIt synonyms : GNAS Complex Locus Gene c.602G A; GSP c.602G A; GNAS c.602G A; GNAS1 c.602G A; NM_000516.5:c.602G A; GSA c.602G A;

NCIt definition : A nucleotide substitution at position 602 of the coding sequence of the GNAS gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL544976;

SNP ID : rs121913495;

Details

Origin ID

C146957;

UMLS CUI

C4687602;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.R201H [NCIt concept]
- GNAS Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

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