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Does anyone know the rs number for the splice site mutation in DPYD
known as DPYD*2A? It's also known as DPYD IVS14+1G>A.
I would be grateful if you could also please provide a reference for
finding this rs number.
Many thanks,
Kellie Turner
[PK related? DPYD gene > metabolism > ADME > PK? ;-) - db]
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Does anyone know the rs number for the splice site mutation in DPYD
known as DPYD*2A? It's also known as DPYD IVS14+1G>A.
I would be grateful if you could also please provide a reference for
finding this rs number.
Many thanks,
Kellie Turner
[PK related? DPYD gene > metabolism > ADME > PK? ;-) - db]
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The following message was posted to: PharmPK
Kellie:
It is rs3918290
See the following links:
http://www.pharmgkb.org/search/annotatedGene/dpyd/variant.jsp
http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=3918290
Swati
Swati Nagar, Ph.D.
Assistant Professor
Department of Pharmaceutical Sciences
Temple University School of Pharmacy
3307 N Broad St, Philadelphia PA 19140
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Kellie,
I'm not sure whether this is what you are looking for, but the
Pharmacokinetics and Pharmacogenomics database (
http://www.pharmgkb.org/search/annotatedGene/dpyd/variant.jsp
) gives the rs number for DPYD*2A as being
rs3918290
For everybody else who is confused (as I was until I looked it up) as
to what DYPD is:
Dihydropyrimidine dehydrogenase (DPYD) is the initial and rate
limiting enzyme in the 3-step pathway of uracil and thymidine
catabolism and the pathway leading to the formation of beta-alanine.
It is involved in the metabolism of 5-FU.
Regards
Mark Milton
VP, Nonclinical Development
Tempo Pharmaceuticals.
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