. 2010 Oct;335(1):42–50. doi: 10.1124/jpet.110.170159

TABLE 2.

Genetic variants of OCT1 identified in Chinese and Japanese from the 1000 Genomes Project (nsSNPs) (n = 59) and 66 Japanese patients with type 2 diabetes

Coding Position	Amino Acid Position	Ref SNP	Allele Frequency		No. of Chromosomes with Variant (a/b)
Coding Position	Amino Acid Position	Ref SNP	66 Patients with T2D^a	1000 Genome Project	No. of Chromosomes with Variant (a/b)
−43 T>G	Intron 1	rs4646272	0.34	0.59	45/70
289 C>A^*	Q97K	N.A.	N.D	0.017	0/2
480 G>C	L160F	rs683369	N.D	0.88	0/104
350 C>T^*	P117L	N.A.	0.023	N.D	3/0
616 C>T^*	R206C	N.A.	0.008	N.D	1/0
1022 C>T	P341L	rs2282143	N.D	0.19	0/22
1222 G>A	V408M	rs628031	0.15	0.19	20/22

N.A., not available. N.D., not determined.

The nsSNPs were functionally characterized in this report. Positions are relative to the ATG start site and are based on the cDNA sequence from GenBank accession no. NM_003057. a/b, the number of chromosome with variants between ^a66 patients with T2D and ^b59 CHB/JPT in the 1000 Genomes Project.