IthaID: 2893



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs1342645 HGVS Name: NG_008462.1:g.68587G>A

Context nucleotide sequence:
AAGCAGCCCCATCTAGCCTTTTGTT [A/G] CCCTCTGCTCCTTGGAGGTGAAAGA (Strand: +)

Comments: SNP associated with HbF level variation in the Multicenter Study of Hydroxyurea in SCA (n=280).

External Links

Location

Chromosome: 6
Locus: NG_008462.1
Locus Location: 68587
Size: 1 bp
Located at: PEX7
Specific Location: Intron 8

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH, Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia., Cell. Mol. Biol. (Noisy-le-grand) , 50(1), 23-33, 2004 PubMed
  2. Driss A, Asare KO, Hibbert JM, Gee BE, Adamkiewicz TV, Stiles JK, Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype., Genomics Insights , 2009(2), 23-48, 2009 PubMed
Created on 2016-05-23 09:33:53, Last reviewed on (Show full history)

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