IthaID: 3198

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs17778257 HGVS Name: NG_016421.1:g.3422A>T

Context nucleotide sequence:

Also known as:

Comments: SNP associated with chronic pain in sickle cell disease. SNP was found to be in a linkage disequilibrium block in the studied cohort.

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: 5
Locus: NG_016421.1
Locus Location: 3422
Size: 1 bp
Located at: ADRB2
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Jhun E, He Y, Yao Y, Wilkie D, Molokie R, Wang J, (283) Beta2-adrenergic receptor gene polymorphisms and haplotypes associate with chronic pain in sickle cell disease., J Pain , 17(4), S46-S47, 2016
Created on 2017-02-28 12:56:55, Last reviewed on (Show full history)

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