IthaID: 2741


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs6557420 HGVS Name: NG_011995.1:g.19853C>A

Context nucleotide sequence:
ACAGCTATTCTTATCTGGTGGACAC [G/T] GCTAAACGGCCAGAATTCTGACCTG (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

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 6
Locus: NG_011995.1
Locus Location: 19853
Size: 1 bp
Located at: NOX3
Specific Location: Intron 5

Other details

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

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
Created on 2016-05-13 15:40:15, Last reviewed on (Show full history)

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