IthaID: 2946



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10901080 HGVS Name: NG_011542.1:g.43563G>T

Context nucleotide sequence:
AGAAAGATGCTATTGTCCGTATCTC [G/T] GTGTACAAGGGGAACATGTCATTTG (Strand: +)

Also known as:

Comments: SNP associated with the HbF response to treatment with hydroxyurea in sickle cell disease/β-thalassaemia compound heterozygous patients (n=119).

External Links

Phenotype

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

Location

Chromosome: 9
Locus: NG_011542.1
Locus Location: 43563
Size: 1 bp
Located at: ASS1
Specific Location: Intron 12

Other details

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

Sequence Viewer

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Publications / Origin

  1. Chalikiopoulou C, Tavianatou AG, Sgourou A, Kourakli A, Kelepouri D, Chrysanthakopoulou M, Kanelaki VK, Mourdoukoutas E, Siamoglou S, John A, Symeonidis A, Ali BR, Katsila T, Papachatzopoulou A, Patrinos GP, Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients., Pharmacogenomics , 17(4), 393-403, 2016 PubMed
Created on 2016-08-09 14:22:31, Last reviewed on (Show full history)

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