HBB NM_000518.4:c.364G C

Preferred Label : HBB NM_000518.4:c.364G C;

NCIt synonyms : Beta-Globin c.364G C; NM_000518.4:c.364G C; HBB c.364G C; Hemoglobin Beta c.364G C;

NCIt definition : A nucleotide substitution at position 364 of the coding sequence of the HBB gene where guanine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL1779182;

SNP ID : rs33946267;

Details

Origin ID

C186713;

UMLS CUI

C5670716;

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]
molecular_abnormality_involves_gene
- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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