Preferred Label : PTPN11 NM_002834.4:c.1508G C;
NCIt synonyms : SHP2 c.1508G C; PTP2C c.1508G C; SH-PTP2 c.1508G C; SHP-2 c.1508G C; PTPN11 c.1508G C; BPTP3 c.1508G C; Protein Tyrosine Phosphatase Non-Receptor Type 11 c.1508G C; NM_002834.4:c.1508G C; PTP-1D c.1508G C;
NCIt definition : A nucleotide substitution at position 1508 of the coding sequence of the PTPN11 gene
where guanine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1378834;
SNP ID : rs397507546;
Origin ID : C169029;
UMLS CUI : C5239322;
Semantic type(s)
molecular_abnormality_involves_gene