IthaID: 2915

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: -840 G>A HGVS Name: NC_000004.12:g.69095621G>A

Context nucleotide sequence:
ccaaataactgtgaggaagtgagtc [A/G ] gagaacaagctaacctaatgattaa (Strand: +)

Also known as: rs7438135

Comments: The presence of the UGT2B7 -840G allele associated with reduced morphine glucuronidation in sickle cell disease (SCD) patients, thereby contributing to the variability in hepatic clearance of morphine in SCD.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Morphine glucuronidation


Chromosome: 4
Locus Location: N/A
Size: 1 bp
Located at: UGT2B7
Specific Location: N/A

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

Sequence Viewer

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Publications / Origin

  1. Darbari DS, van Schaik RH, Capparelli EV, Rana S, McCarter R, van den Anker J, UGT2B7 promoter variant -840G>A contributes to the variability in hepatic clearance of morphine in patients with sickle cell disease., Am. J. Hematol. , 83(3), 200-2, 2008 PubMed
Created on 2016-05-24 12:06:44, Last reviewed on 2019-07-03 21:46:21 (Show full history)

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