Long-Distance Phasing of a Tentative “Enhancer” Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions

Long-Distance Phasing of a Tentative “Enhancer” Single-Nucleotide Polymorphism With CYP2D6 Star Allele Definitions

BackgroundThe CYP2D6 gene locus has been extensively studied over decades, yet a portion of variability in CYP2D6 activity cannot be explained by known sequence variations within the gene, copy number variation, or structural rearrangements. It was proposed that rs5758550, located 116 kb downstream...

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Bibliographic Details
Main Authors: Erin C. Boone, Wendy Y. Wang, Roger Gaedigk, Mariana Cherner, Anick Bérard, J. Steven Leeder, Neil A. Miller, Andrea Gaedigk
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Pharmacology
Subjects:
CYP2D6
allele definition
enhancer SNP
ddPCR = droplet digital PCR
phasing
Online Access:https://www.frontiersin.org/article/10.3389/fphar.2020.00486/full

Internet

https://www.frontiersin.org/article/10.3389/fphar.2020.00486/full

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