IthaID: 2802



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs2855126 HGVS Name: NG_000007.3:g.45699G>C

Context nucleotide sequence:
GAAGAAAGAGAAAAAAATAAGCTTC [C/G] GTGTTCAGTGGATTAGAAACCATGT (Strand: -)

Comments: SNP associated with HbF levels in the general (non-anaemic) population of Sardinia (n=4305), as well as in patients from Thailand with HbE/β0-thalassemia, who were classified as clinically mild for the disease (n=207). SNP associated with higher levels of serum uric acid in African Americans (n=1976).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 45699
Size: 1 bp
Located at: HBG1-HBG2
Specific Location: N/A

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]
Hyperuricemia [HP:0002149]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Thai, Sardinian, African American
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 PubMed
  2. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
  3. Shriner D, Kumkhaek C, Doumatey AP, Chen G, Bentley AR, Charles BA, Zhou J, Adeyemo A, Rodgers GP, Rotimi CN, Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans., BMC Med. Genet. , 16(0), 103, 2015 PubMed
Created on 2016-05-16 18:36:20, Last reviewed on 2016-09-12 13:17:06 (Show full history)

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