IthaID: 2799



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs3813727 HGVS Name: NG_000007.3:g.62934T>C

Context nucleotide sequence:
GAAAGAGATGCGGTGGGGAGATATG [C/T] AGAGGAGAACAGGGTTTCTGAGTCA (Strand: -)

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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 62934
Size: 1 bp
Located at: δ
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. 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
  2. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
Created on 2016-05-16 18:12:08, Last reviewed on 2016-09-27 16:48:04 (Show full history)

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