IthaID: 2117



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs6037828 HGVS Name: NG_011970.1:g.40474G>A

Context nucleotide sequence:
CCTGAGGTATACACATACAGAGTCA [C/T] GGAGGTTTTCTGACAAAAACTACTC (Strand: +)

Comments: SNP strongly associated with increased HbF levels in the general (non-anaemic) population of Sardinia (n=4305) [PMID: 18245381]. The association was not replicated in a β-thalassemia Chinese cohort (n=312) [PMID: 22023465].

External Links

Location

Chromosome: 20
Locus: NG_011970.1
Locus Location: 40474
Size: 1 bp
Located at: CSNK2A1
Specific Location: Intron 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Chinese, Sardinians
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. He Y, Lin W, Luo J, Influences of genetic variation on fetal hemoglobin., Pediatr Hematol Oncol , 28(8), 708-17, 2011 PubMed
Created on 2013-09-18 17:12:18, Last reviewed on 2016-05-16 16:48:23 (Show full history)

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