IthaID: 3146
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1800587 | HGVS Name: | NG_008850.1:g.5012C>T |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTTTAATAATAGTAACCAGGCAACA [C/T] CATTGAAGGCTCATATGTAAAAATC (Strand: -)
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 |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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
Created on 2017-01-23 15:40:30,
Last reviewed on 2017-02-28 12:12:34 (Show full history)
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