Preferred Label : KLF1 NM_006563.5:c.115A C;
NCIt synonyms : KLF1 c.115A C; NM_006563.5:c.115A C; EKLF c.115A C; Kruppel Like Factor 1 c.115A C; Erythroid Kruppel-Like Factor c.115A C;
NCIt related terms : KLF1 - c.115 A C;
NCIt definition : A nucleotide substitution at position 115 of the coding sequence of the KLF1 gene
where adenine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1773764;
SNP ID : rs112631212;
Origin ID : C185456;
UMLS CUI : C5669910;
Semantic type(s)
molecular_abnormality_involves_gene