CYP2A13 allele nomenclature

Allele	Protein	Nucleotide changes, Gene	Effect	Enzyme activity		References
				In vivo	In vitro
CYP2A13*1A	CYP2A13.1	None		Normal	Normal	Fernandez-Salguero et al., 1995 Su et al., 2000
CYP2A13*1B	CYP2A13.1	-12C>A				Fujieda et al., 2003
CYP2A13*1C	CYP2A13.1	187T>C				Fujieda et al., 2003
CYP2A13*1D	CYP2A13.1	1757A>G				Fujieda et al., 2003
CYP2A13*1E	CYP2A13.1	1894G>T				Fujieda et al., 2003
CYP2A13*1F	CYP2A13.1	6461T>A				Fujieda et al., 2003
CYP2A13*1G	CYP2A13.1	7571G>C				Fujieda et al., 2003
CYP2A13*1H	CYP2A13.1	-1479T>C; -1240A>G; -411G>A; 1757A>G; 2366C>T; 6424C>T; 6432C>T; 7233T>G; 7520C>G				Fujieda et al., 2003
CYP2A13*1J	CYP2A13.1	523C>T				Cauffiez et al., 2004
CYP2A13*1K	CYP2A13.1	1991C>A				Cauffiez et al., 2004
CYP2A13*1L	CYP2A13.1	7365T>C				Cauffiez et al.., 2004
CYP2A13*2A	CYP2A13.2	-1479T>C; -1429A>G; -1240A>G; -411G>A; 74G>A; 1757A>G; 2211T>C; 3375C>T	R25Q; R257C			Fujieda et al., 2003
CYP2A13*2B	CYP2A13.2	-1479T>C; -1429A>G; -1240A>G; -411G>A; 74G>A; 1757A>G; 2211T>C; 3375C>T; 6424C>T; 6432C>T; 7233T>G; 7571G>C	R25Q; R257C			Fujieda et al., 2003
CYP2A13*3	CYP2A13.3	-1479T>C; -729C>T; -411G>A; 1634_1635insACC; 1706C>G; 1757A>G; 1801G>C; 1970A>C; 2211T>C; 5530T>C; 5578A>C; 6424C>T; 7233T>G; 7520C>G	133_134insT; D158E			Fujieda et al., 2003
CYP2A13*4	CYP2A13.4	579G>A	R101Q			Fujieda et al., 2003
CYP2A13*5	CYP2A13.5	7343T>A	F453Y			Fujieda et al., 2003
CYP2A13*6	CYP2A13.6	7465C>T	R494C			Fujieda et al., 2003
CYP2A13*7	CYP2A13.7	578C>T	R101X			Cauffiez et al., 2004 Zhang et al., 2003
CYP2A13*8	CYP2A13.8	1706C>G	D158E			Cauffiez et al., 2004
CYP2A13*9	CYP2A13.9	5294G>T	V323L			Cauffiez et al., 2004
CYP2A13*10	CYP2A13.10	74G>A; 3375C>T; 5792T>C	R25Q; R257C; I331T			Tamaki et al., 2011

Changes made since the last update (13-Nov-2007) are marked in red.

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

OMIM GeneCards

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