IthaID: 3328
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs165599 | HGVS Name: | NC_000022.11:g.19969258G>A |
Context nucleotide sequence:
TGTTAGCCCCATGGGGACGACTGCC [A/G] GCCTGGGAAACGAAGAGGAGTCAGC (Strand: +)
Also known as:
Comments: SNP (G allele) associated with a lower frequency of pain-related emergency room visits in African-American females with SCD from the walk-PHaSST study.
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: | 22 |
|---|---|
| Locus: | NG_011526.1 |
| Locus Location: | 32519 |
| Size: | 1 bp |
| Located at: | COMT |
| Specific Location: | 3'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
- Zhang Y, Belfer I, Nouraie M, Zeng Q, Goel R, Chu Y, Krasiy I, Krishnamurti L, Association of genetic variation ingene with pain related to sickle cell disease in patients from the walk-PHaSST study., J Pain Res , 11(0), 537-543, 2018
Created on 2018-04-03 20:18:47,
Last reviewed on (Show full history)
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