IthaID: 2095



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs7776054 HGVS Name: NC_000006.12:g.135097778A>G

Context nucleotide sequence:
TTTGTAATTTGTGTTCTGCTTCTAC [A/G] ATAGACATTTTTCATGTCATTAGAT (Strand: +)

Comments: SNP associated with HbF level variation in the Cooperative Study of Sickle Cell Disease (CSSCD) and in a sickle cell disease cohort from Brazil. SNP associated with HbA2 levels in individuals from the SardiNIA study.

External Links

Location

Chromosome: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 1 bp
Located at: HBS1L-MYB
Specific Location: N/A 0

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb levels [HP:0011902]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African American, Brazilian, Sardinian
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. Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F, Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels., Nat. Genet. , 47(11), 1264-71, 2015 PubMed
Created on 2013-09-12 11:51:55, Last reviewed on 2018-11-20 17:14:19 (Show full history)

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