IthaID: 3590



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs33389 HGVS Name: NG_009062.1:g.119579G>A

Context nucleotide sequence:
CTATTATTGCTTCTGCTTAAAACTC [G>A] CATCCCCTAATGCAAGCCTGAGCA (Strand: -)

Also known as:

Comments: The TT and CT genotypes associated with increased health care utilization for acute pain in an African-American cohort with sickle cell disease. No association with chronic pain as deduced by Composite Pain Index (CPI). Though there is a strong linkage disequilibrium among the three NR3C1 variants (rs33389, rs2963155 and rs9324918), they do not form a haploblock.

External Links

Location

Chromosome: 5
Locus: NG_009062.1
Locus Location: 119579
Size: 1 bp
Located at: NR3C1
Specific Location: Intron 2

Phenotype

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

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. Jhun EH, Sadhu N, Yao Y, He Y, Molokie RE, Wilkie DJ, Wang ZJ, Glucocorticoid receptor single nucleotide polymorphisms are associated with acute crisis pain in sickle cell disease., Pharmacogenomics, 19(13), 1003-1011, 2018 PubMed
Created on 2020-05-19 12:17:09, Last reviewed on (Show full history)

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