Rs16947
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs16947 |
| hapmap | rs16947 |
| hgdp | rs16947 |
| ensembl | rs16947 |
| gopubmed | rs16947 |
| scholar | rs16947 |
| rs16947 | |
| pharmgkb | rs16947 |
| hgvbaseg2p | rs16947 |
| medrefsnp | rs16947 |
| 23andMe | rs16947 |
| SNP Nexus |
| Gene | CYP2D6 |
| Chromosome | 22 |
| Orientation | plus |
| Position | 40853886 |
| Genotype | Effect |
|---|---|
| rs16947(A;A) | CYP2D6*2 homozygote |
| rs16947(A;G) | carrier of one CYP2D6*2 allele |
| rs16947(G;G) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs16947(A;A) | CYP2D6*2 homozygote | |
| Rs16947(A;G) | carrier of one CYP2D6*2 allele | |
| Rs16947(G;G) | 00 | normal |
The 'standard' nucleotide at this SNP is (G). The (A) variant causes an amino acid change (from arginine to cysteine) at position 296 of the CYP2D6 protein. Typically, this change is found associated with another change, a serine to threonine change at CYP2D6 position 486, and together the resulting allele is known as CYP2D6*2.
Inheriting a normal number of copies of this allele results in CYP2D6 function that is indistinguishable from wild-type (normal) activity. However, this variant has been seen present in higher copy numbers, and in these cases, can result in the ultrafast metabolizer phenotype [PMID 7903454].
- related to DEBRISOQUINE, ULTRARAPID METABOLISM OF according to omim 124030.0007
| Neighbor | rs1065852 |
| Distance | 2751 |
| PharmGKB | PA161145192 |
| Name | CYP2D6:2850C>T |
| Annotation | This common SNP is found in the CYP2D6*2 haplotype among others. |
| Gene | CYP2D6 |
| Featue | Exon/NonSyn |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2d6/variant.jsp#ImportantVariantInformationforCYP2D6-888 |
| Drugs | |
| Diseases | |
| Curation Level | In-Depth |
