HBG1 wt Allele

Preferred Label : HBG1 wt Allele;

NCIt synonyms : HSGGL1; Hemoglobin Subunit Gamma 2 wt Allele; HBGR; PRO2979; HBGA; Hemoglobin Gamma A Gene;

NCIt definition : Human HBG1 wt allele is located in the vicinity of 11p15.5 and is approximately 2 kb in length. This allele, which encodes hemoglobin subunit gamma-1 protein, plays a role in the transport of oxygen to tissues of the fetal and neonatal body. Mutations in this gene may be associated with beta-thalassemia.;

GenBank Accession Number : NM_000559;

Details

Origin ID

C84956;

UMLS CUI

C2827563;

OMIM relation
- Hemoglobin, gamma a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- S-Beta Thalassemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.5 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Respiratory Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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