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:

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


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


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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2018-04-03 20:18:47, Last reviewed on (Show full history)

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