CYP2R1 allele nomenclature

Allele

Protein

Nucleotide changes, cDNA

Nucleotide changes,

gene

Effect

Enzyme activity

References

In_vivo

In_vitro

CYP2R1*1

CYP2R1.1

None

None

 

Normal

Normal

 

CYP2R1*2

CYP2R1.2

296T>C

6359T>C

L99P

Abolished

Cheng et al., 2004

Changes made since the last update (27-Mar-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