IthaID: 2115



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs16981804 HGVS Name: NG_007563.2:g.133649C>T

Context nucleotide sequence:
ACAACAACAACAAAACCCAGGGAAA [C/T] GTACCTTGGTGTGAACAGCACTGAA (Strand: +)

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

External Links

Location

Chromosome: X
Locus: NG_007563.1
Locus Location: 133649
Size: 1 bp
Located at: PHEX
Specific Location: Intron 12

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. Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster., Blood , 115(9), 1815-22, 2010 PubMed
Created on 2013-09-18 16:48:04, Last reviewed on 2016-05-13 09:22:02 (Show full history)

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