IthaID: 2707



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs1483757 HGVS Name: NG_011991.2:g.43043T>C

Context nucleotide sequence:
TTCTCTGGGGTTGAAATTGACTTCC [A/G] TTCCTCCAGCCATATTCTCTTGCCT (Strand: +)

Also known as:

Comments: SNP associated with HbF levels in the younger subjects (<24 years; n=980) of the Cooperative Study of Sickle Cell Disease (CSSCD).

External Links

Location

Chromosome: 12
Locus: NG_011991.2
Locus Location: 43043
Size: 1 bp
Located at: NOS1
Specific Location: Intron 2

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

Sequence Viewer

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Publications / Origin

  1. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008 PubMed
Created on 2016-05-12 15:42:41, Last reviewed on 2020-03-26 16:36:49 (Show full history)

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