rs6552182
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs6552182(C;C) |
Make rs6552182(C;T) |
Make rs6552182(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 68567230 |
Gene | UGT2B17 |
is a | snp |
is | mentioned by |
dbSNP | rs6552182 |
dbSNP (classic) | rs6552182 |
ClinGen | rs6552182 |
ebi | rs6552182 |
HLI | rs6552182 |
Exac | rs6552182 |
Gnomad | rs6552182 |
Varsome | rs6552182 |
LitVar | rs6552182 |
Map | rs6552182 |
PheGenI | rs6552182 |
Biobank | rs6552182 |
1000 genomes | rs6552182 |
hgdp | rs6552182 |
ensembl | rs6552182 |
geneview | rs6552182 |
scholar | rs6552182 |
rs6552182 | |
pharmgkb | rs6552182 |
gwascentral | rs6552182 |
openSNP | rs6552182 |
23andMe | rs6552182 |
SNPshot | rs6552182 |
SNPdbe | rs6552182 |
MSV3d | rs6552182 |
GWAS Ctlg | rs6552182 |
GMAF | 0.05464 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
UGT2B17 encodes the protein UDP glucuronosyltransferase
[PMID 18334593] Deletion of both copies of this gene alters testosterone metabolism making steroid use undetectable.
The first page of this thesis claims that the deletion allele has a frequency of 4.8% in Swedes but is completely absent in Koreans. While its abstract claims "it is a common polymorphism with an allele frequency of 29 % in Swedes and 78 % in Koreans." It is interesting to note that this was included in User:Watson snp data despite it's 100% CEU frequency.