General Information of Drug Transporter (DT)
DT ID	DTD0427 Transporter Info
Gene Name	SLC5A7
Protein Name	High affinity choline transporter 1
Gene ID	60482
UniProt ID	Q9GZV3
Genetic Polymorphisms of DT (GPD)
Genetic Polymorphism	rs1013940
Site of GPD	chr2:107992192 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	A>G
Minor Allele Frequency	A=0.9260/1832 (Global)
Genotypes AG + GG	Click to Show/Hide the Full List of Affected Drugs:           1 Drugs in Total
Vincristine	N.A.	Peripheral Nervous System Diseases	Genotypes AG + GG are associated with increased risk of Peripheral Nervous System Diseases when treated with vincristine as compared to genotype AA.		[ 1]
Genetic Polymorphism	rs11685873
Site of GPD	chr2:107995063 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	G>A
Minor Allele Frequency	G=0.8560/1694 (Global)
Allele G	Click to Show/Hide the Full List of Affected Drugs:           3 Drugs in Total
Donepezil	N.A.	Peripheral Nervous System Diseases	Allele G is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele A.		[ 2]
Galantamine	N.A.	Peripheral Nervous System Diseases	Allele G is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele A.		[ 2]
Rivastigmine	N.A.	Peripheral Nervous System Diseases	Allele G is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele A.		[ 2]
Genetic Polymorphism	rs6542746
Site of GPD	chr2:107989380 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	C>G / C>T
Minor Allele Frequency	C=0.4500/890 (Global)
Allele C	Click to Show/Hide the Full List of Affected Drugs:           3 Drugs in Total
Donepezil	N.A.	Peripheral Nervous System Diseases	Allele C is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele T.		[ 2]
Galantamine	N.A.	Peripheral Nervous System Diseases	Allele C is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele T.		[ 2]
Rivastigmine	N.A.	Peripheral Nervous System Diseases	Allele C is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele T.		[ 2]
Genetic Polymorphism	rs6720783
Site of GPD	chr2:108006866 (GRCh38.p12)
GPD Type	SNP
Allele(s) in dbSNP	T>A / T>C / T>G
Minor Allele Frequency	T=0.5670/1122 (Global)
Allele G	Click to Show/Hide the Full List of Affected Drugs:           3 Drugs in Total
Donepezil	N.A.	Peripheral Nervous System Diseases	Allele G is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele T.		[ 2]
Galantamine	N.A.	Peripheral Nervous System Diseases	Allele G is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele T.		[ 2]
Rivastigmine	N.A.	Peripheral Nervous System Diseases	Allele G is not associated with response to donepezil, galantamine or rivastigmine in people with Alzheimer Disease as compared to allele T.		[ 2]
References
1	Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes. Clin Pharmacol Ther. 2019 Feb;105(2):402-410.
2	Association of the choline acetyltransferase gene with responsiveness to acetylcholinesterase inhibitors in Alzheimer's disease. Pharmacopsychiatry. 2015 May;48(3):111-7.

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