IthaID: 2112



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs114398597 HGVS Name: NC_000006.12:g.135107536A>G

Context nucleotide sequence:
TTTCTCCTCAAAATCTTCCTTCGCT [A/G] CTAAAAGGTGTAGGCACATAGTTTC (Strand: +)

Comments: SNP associated with HbF levels in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1032).

External Links

Location

Chromosome: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 1 bp
Located at: HBS1L-MYB
Specific Location: N/A 0

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. Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G, Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation., Nat. Genet. , 42(12), 1049-51, 2010 PubMed
Created on 2013-09-17 12:59:36, Last reviewed on 2018-11-20 19:12:45 (Show full history)

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