IthaID: 2918



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4282891 HGVS Name: NC_000010.11:g.70170313A>G

Context nucleotide sequence:
ACCGCCTGCGTGTCACTTCCCCCCC [A>G] CCCAACCCCGCCAGGGCCAGCCTCC (Strand: +)

Also known as:

Comments: SNP associated with a significant change in HbF levels after 2 years of hydroxyurea (HU) treatment in African Americans with sickle cell disease (SCD) acquired from the Sickle Cell Pulmonary Hypertension Screening Study (n=32). SNP did not associate with baseline HbF in SCD patients from Cameroon, without any HU treatment (n=484).

External Links

Phenotype

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

Location

Chromosome: 10
Locus: NM_001142648.2
Locus Location: N/A
Size: 1 bp
Located at: SAR1A
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

Sequence Viewer

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Publications / Origin

  1. Kumkhaek C, Taylor JG, Zhu J, Hoppe C, Kato GJ, Rodgers GP, Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia., Br. J. Haematol. , 141(2), 254-9, 2008 PubMed
  2. Green NS, Barral S, Emerging science of hydroxyurea therapy for pediatric sickle cell disease., Pediatr. Res. , 75(1), 196-204, 2014 PubMed
  3. Pule GD, Bitoungui VJN, Chemegni BC, Kengne AP, Wonkam A, SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon., BMC Res Notes , 10(1), 183, 2017 PubMed
Created on 2016-05-24 18:16:06, Last reviewed on 2019-12-12 15:34:59 (Show full history)

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