GENE:UGT1A1

Nucleotide changes from the UGT

nomenclature page:
https://www.pharmacogenomics.p
ha.ulaval.ca/wp-
content/uploads/2015/04/UGT1A1
-allele-nomenclature.html
-3275T>G -364C>T

5' of UGT1A1;
Effect on protein (NP_000454.1) intronic for other
UGT1As e.g.
UGT1A4 nearGene-5
Position at NC_000002.12 (Homo
sapiens chromosome 2,
GRCh38.p2)
g.233757013T>G g.233759924C>T
Position at NG_002601.2 (UGT1A1
RefSeqGene) g.172270T>G g.175181C>T
rsID rs4124874 rs887829
UGT1A1 Allele
*1 T C
*6
*27
*28
*36
*37
*60 G
*80 T
*80+*28 T
*80+*37 T

NOTES:
rsID=RefSNP accession ID number (http://www.ncbi.nlm.nih.gov/snp/)
All variants are annotated to the positive DNA strand.
To see a full list of known UGT1A1 alleles see https://www.pharmacogenomics.pha.ulaval.ca/wp-content/uploads/
To see a full list of known UGT1A1 alleles and function see http://www.pharmacogenomics.pha.ulaval.ca/files/cont
An important caveat for all genotyping tests is that the decision to assign an allele a “wild-type” status is based upo
UGT1A1*60 is in incomplete linkage disequilibrium with *28 and to date, there are no data to suggest that *60 by i
Citations for assignment of function can be found at https://www.pharmgkb.org/page/ugt1a1RefMaterials
UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone,
 CA(TA)5TAA
CA(TA)6TAA
CA(TA)7TAA
CA(TA)8TAA 211G>A 686C>A

Promoter region G71R P229Q

g.233760233 g.233760498G>A g.233760973C>A

g.175490 g.175755G>A g.176230C>A

rs4148323 rs35350960

CAT G C
A
A
CATAT
C
CATATAT

CATAT
CATATAT

macogenomics.pha.ulaval.ca/wp-content/uploads/2015/04/UGT1A1-allele-nomenclature.html
/www.pharmacogenomics.pha.ulaval.ca/files/content/sites/pharmacogenomics/files/Nomen clature/UGT1A/UGT1A1.htm.
o assign an allele a “wild-type” status is based upon a genotyping test that interrogates only the most common and already- pro
to date, there are no data to suggest that *60 by itself results in decreased UGT1A1 function.
.pharmgkb.org/page/ugt1a1RefMaterials
7. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80,
n clature/UGT1A/UGT1A1.htm.
the most common and already- proven sites of functional variation. In human DNA, it is always possible that a new, previously

If a patient is only tested for *80, decreased function may be inferred.

ossible that a new, previously undiscovered (and therefore un-interrogated) site of variation may confer loss-of-function in an
y confer loss-of-function in an individual, and thus lead to the rare possibility of a non-functional allele being erroneously called
allele being erroneously called as “wild-type”.
Date Notes
11/3/2017
10/8/2019 Updated format, removed function column