. Author manuscript; available in PMC: 2011 Jan 1.

Published in final edited form as: Pharmacogenet Genomics. 2010 Jan;20(1):26–37. doi: 10.1097/FPC.0b013e3283343296

Table 3.

Sequence variants found in human CYB5A and CYB5R3 cDNA in 111 subjects.

Gene	Sequence change	Heterozygosity	Amino acid change	Ref SNP ID	Number of subjects	Minor allele frequency		Genotype frequency¹
Gene	Sequence change	Heterozygosity	Amino acid change	Ref SNP ID	Number of subjects	AA	CA	AA	CA
CYB5A	c.13T>G	Het	S5A	novel	2	0.067	0.000	0.124	0.000
	c.36C>T	Het	None	rs1051236	28	0.100	0.156	0.180	0.263
		Hom			2			N.O.	0.022
	c.288G>A	Het	None	rs7238987	31	0.167	0.156	0.278	0.263
		Hom			2			N.O.	0.022
	c.369C>T	Het	None	rs2276275	1²	ND	ND	ND	ND
CYB5R3	c.132G>A	Het		rs5996200	22	0.067	0.097	0.124	0.192
	c.176G>A	Het	R59H	novel	1	0.000	0.005	0.000	0.011
	c.350C>G	Het	T117S³	rs1800457	7	0.200	0.005	0.320	0.011
	c.890G>A	Het	R297H	novel	1	0.000	0.005	0.000	0.011

Het: heterozygous for SNP; Hom: homozygous for SNP

N.O.: not observed; ND: not determined

All polymorphisms were in Hardy-Weinberg equilibrium

Liver was of unknown ethnicity

Equivalent to published T116S [14]