IthaID: 3146



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1800587 HGVS Name: NG_008850.1:g.5012C>T

Context nucleotide sequence:
CTTTAATAATAGTAACCAGGCAACA [C/T] CATTGAAGGCTCATATGTAAAAATC (Strand: -)

Also known as:

Comments: SNP (T allele) associated with chronic pain in African-Americans with sickle cell disease.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Pain [HP:0012531]

Location

Chromosome: 2
Locus: NG_008850.1
Locus Location: 5012
Size: 1 bp
Located at: ILA1
Specific Location: 5'UTR

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

Sequence Viewer

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Publications / Origin

  1. Hu X, Jhun EH, Yao Y, He Y, Molokie RE, Wilkie DJ, Wang ZJ, IL1A rs1800587 associates with chronic noncrisis pain in sickle cell disease., Pharmacogenomics , 17(18), 1999-2006, 2016 PubMed
  2. Hu X, Jhun E, Yao Y, He Y, Molokie R, Wilkie D, Wang Z, (280) Interleukin 1alpha rs1800587 associates with chronic non-crisis pain in sickle cell disease., J Pain , 17(4), S46, 2016 PubMed
Created on 2017-01-23 15:40:30, Last reviewed on 2017-02-28 12:12:34 (Show full history)

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