IthaID: 2133

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10494225 HGVS Name: NG_011967.1:g.11702C>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).

External Links


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


Chromosome: 1
Locus: NG_011967.1
Locus Location: 11702
Size: 1 bp
Located at: HAO2
Specific Location: Intron 1

Other details

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

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
Created on 2013-09-26 16:18:28, Last reviewed on 2016-05-12 16:01:40 (Show full history)

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