IthaID: 2915



Names and Sequences

Functionality: Disease modifying mutation
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.

External Links

Location

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

Phenotype

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

Other details

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

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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