IthaID: 2137



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs1480642 HGVS Name: NG_011994.1:g.331695C>T

Context nucleotide sequence:
ACTTTTTATATGTGAGGGAAAGCTC [C/T] AACTTGCTTTACCTTTCTAAGATAT (Strand: +)

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).

External Links

Location

Chromosome: 6
Locus: NG_011994.1
Locus Location: 331695
Size: 1 bp
Located at: PDE7B
Specific Location: Intron 9

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F response to hydroxyurea

Other details

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

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
Created on 2013-09-27 09:42:41, Last reviewed on 2016-05-12 17:51:36 (Show full history)

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