IthaID: 2814



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs10837707 HGVS Name: NG_000007.3:g.32038A>G

Context nucleotide sequence:
TCATGACCAAGAACACAAATGCAAA [C/T] ACATAAAAACAAAGAAAATATCTGG (Strand: +)

Comments: SNP associated with HbF levels in patients from Thailand with HbE/β0-thalassemia, who were classified as clinically mild (n=207) or severe (n=305) for the disease.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 32038
Size: 1 bp
Located at: HBG2-HBE1
Specific Location: N/A

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

Sequence Viewer

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Publications / Origin

  1. Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer LA, Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia., Clin. Genet. , 72(6), 497-505, 2007 PubMed
  2. Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat PA, Sripichai O, Kumasaka N, Takahashi A, Svasti S, Munkongdee T, Mahasirimongkol S, Peerapittayamongkol C, Viprakasit V, Kamatani N, Winichagoon P, Kubo M, Nakamura Y, Fucharoen S, A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E., Hum. Genet. , 127(3), 303-14, 2010 PubMed
Created on 2016-05-17 10:49:28, Last reviewed on 2016-09-28 10:06:50 (Show full history)

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