IthaID: 2098



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs9389268 HGVS Name: NC_000006.12:g.135098493A>G

Context nucleotide sequence:
GCTGAGATTACAGGCGCATGCAACC [A/G] CACCCGACTAATTTTTTGTGTTTTA (Strand: +)

Comments: SNP associated with HbF levels in the African American Cooperative Study of Sickle Cell Disease (CSSCD) and in sickle cell disease (SCD) cohorts from Brazil. SNP associated with disease severity and HbF levels in Indian SCD patients.

External Links

Location

Chromosome: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 1 bp
Located at: HBS1L-MYB
Specific Location: N/A

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: Brazilian, African American, Indian
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH, DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease., Proc. Natl. Acad. Sci. U.S.A. , 105(33), 11869-74, 2008 PubMed
  2. Upadhye D, Jain D, Trivedi Y, Nadkarni A, Ghosh K, Colah R, Influence of single nucleotide polymorphisms in the BCL11A and HBS1L-MYB gene on the HbF levels and clinical severity of sickle cell anaemia patients., Ann. Hematol. , 95(7), 1201-3, 2016 PubMed
Created on 2013-09-13 13:45:37, Last reviewed on 2018-11-20 17:26:50 (Show full history)

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