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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-01-23 15:40:30 | The IthaGenes Curation Team | Created |
| 2 | 2017-01-23 15:41:17 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-02-28 12:12:34 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07