IthaID: 3417



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs4348933 HGVS Name: NG_000007.3:g.33868T>C | NG_000007.3:g.33868T>G

Context nucleotide sequence:
GAAAAGAGGAGAGAAGTGCAAATAAACTCA [A/C/G] TTAGAAACAAAACAGGAGATACTATTACTG (Strand: +)

Also known as: rs11036509

Comments: SNP associated with HbF levels (negative effect) in the general population of Sardinia (n=4305).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 33868
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: Sardinian
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 PubMed
Created on 2019-05-24 09:42:01, Last reviewed on (Show full history)

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