Variant:
rs4986891 at chr19:41354629 in CYP2A6

Alleles (on + chromosomal strand)
C > T
C > A
Amino Acid Translation
Arg128Leu
Alternate Names:
c.383G>T, g.13622847C>A, g.50803C>A, g.6724G>T, p.Arg128Leu
Haplotypes
This variant is used to determine: CYP2A6*6

Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

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Connected Drugs

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
coumarin

Publications related to rs4986891 at chr19:41354629: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP2A6*6, a novel polymorphism in cytochrome p450 2A6, has a single amino acid substitution (R128Q) that inactivates enzymatic activity. The Journal of biological chemistry. 2001. Kitagawa K, et al. [Article:11278503@PubMed]

Cross-References

UCSC Golden Path:
chr19:41354629
dbSNP:
rs4986891
LS-SNP:
rs4986891

Platform Availability

  • Illumina

Common Searches

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