IthaID: 2134

Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs2327669 HGVS Name: NG_011994.1:g.47849C>G

Context nucleotide sequence:

Also known as:

Comments: SNP associated with the HbF response to treatment with hydroxyurea in individuals with sickle cell disease (n=137) acquired from the Multicenter Study of Hydroxyurea in Sickle Cell Anemia (MSH). SNP associated with HbF levels, as well as disease severity in Greek patients with β-thalassaemia.

External Links


Chromosome: 6
Locus: NG_011994.1
Locus Location: 47849
Size: 1 bp
Located at: PDE7B
Specific Location: Intron 1


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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007 PubMed
  2. Tafrali C, Paizi A, Borg J, Radmilovic M, Bartsakoulia M, Giannopoulou E, Giannakopoulou O, Stojiljkovic-Petrovic M, Zukic B, Poulas K, Stavrou EF, Lambropoulou P, Kourakli A, Felice AE, Papachatzopoulou A, Philipsen S, Pavlovic S, Georgitsi M, Patrinos GP, Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy., Pharmacogenomics , 14(5), 469-83, 2013 PubMed
Created on 2013-09-26 16:27:05, Last reviewed on 2016-10-14 14:05:21 (Show full history)

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