IthaID: 3128



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs17126352 HGVS Name: NC_000014.9:g.73254537G>A

Context nucleotide sequence:
GTGTTCTGTCAGTTGTGGCGTTGGC [A/G] TCCGGAAGCGGAGCGTTACTTGCCG (Strand: +)

Also known as:

Comments: SNP associated with HbF response to hydroxyurea treatment in pediatric patients with sickle cell disease acquired from the Hydroxyurea Study of Long-Term Effects (HUSTLE; n=120) and the NHLBI-sponsored Stroke with Transfusions Changing to Hydroxyurea (SWiTCH; n=51).

External Links

Phenotype

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

Location

Chromosome: 14
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: PAPLN
Specific Location: Exon 12

Other details

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

Sequence Viewer

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Publications / Origin

  1. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
Created on 2016-10-18 11:45:17, Last reviewed on (Show full history)

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