IthaID: 3174



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs7166737 HGVS Name: NC_000015.10:g.75390172A>G

Context nucleotide sequence:
GGCTCCCCTGCTGAGAGAGGAACCT [A/G] CTCTCCCAGCCTGCACAAGAGCATT (Strand: +)

Comments: SNP associated with HbF response to treatment with hydroxyurea in β-thalassemia patients of Greek origin.

External Links

Location

Chromosome: 15
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: SIN3A
Specific Location: Intron 15

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: Greek
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Gravia A, Chondrou V, Kolliopoulou A, Kourakli A, John A, Symeonidis A, Ali BR, Sgourou A, Papachatzopoulou A, Katsila T, Patrinos GP, Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy., Pharmacogenomics , 2016 PubMed
Created on 2017-02-06 15:48:17, Last reviewed on 2017-02-06 15:50:52 (Show full history)

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