HBBP1 (hemoglobin subunit beta pseudogene 1)

2014-11-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
HBH1,HBHP

Other Information

Locus ID:

NCBI: 3044
HGNC: 4828

Variants:

dbSNP: 3044
ClinVar: 3044
COSMIC: HBBP1

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

References

Pubmed IDYearTitleCitations
201839292010A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.57
229431112012A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype.4
230946362012Influence of BCL11A, HBS1L-MYB, HBBP1 single nucleotide polymorphisms and the HBG2 XmnI polymorphism On Hb F levels.3

Citation

Dessen P

HBBP1 (hemoglobin subunit beta pseudogene 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64181/hbbp1