IthaID: 2886



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs243027 HGVS Name: NC_000002.12:g.60379872T>G

Context nucleotide sequence:
TATGGTGATAAACTTCATTGATAAA [A/C] GGAAAGTGAAACTTAAAACATTAAC (Strand: -)

Also known as:

Comments: SNP associated with F-cell variation in healthy Northern Europeans (TwinUK cohort) [PMID: 17767159]. The association was not replicated in Chinese, Thai and African American subjects [PMID: 18691915].

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: F-cell numbers

Location

Chromosome: 2
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: MIR4432HG
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Nortern European
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Menzel S, Garner C, Gut I, Matsuda F, Yamaguchi M, Heath S, Foglio M, Zelenika D, Boland A, Rooks H, Best S, Spector TD, Farrall M, Lathrop M, Thein SL, A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15., Nat. Genet. , 39(10), 1197-9, 2007 PubMed
  2. Sedgewick AE, Timofeev N, Sebastiani P, So JC, Ma ES, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DH, BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies., Blood Cells Mol. Dis. , 41(3), 255-8, 2008 PubMed
Created on 2016-05-19 16:21:25, Last reviewed on (Show full history)

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