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See other UGT1A8 GT Assays ›
SNP ID:
rs1042597
Gene
UGT1A8
Gene Name
Set Membership:
> DME > Validated > Inventoried
Chromosome Location:
Chr.2: 233618225 - 233618225 on Build GRCh38
Polymorphism:
C/G, Transversion substitution
Context Sequence [VIC/FAM]:

TCTGTGGTCTTCGCCAGGGGAATAG[C/G]TTGCCACTATCTTGAAGAAGGTGCA

Assay ID C__11742072_10
Size VIC-FAM | 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 606433

Literature Links:

 UGT1A8 PubMed Links

Allele Nomenclature:

 UGT1A8*2,c.518C>G UGT1A8*2,c.518G>C UGT1A8*2,g.518G>C

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
G (0.26)
(0.74)
Caucasian
G (0.24)
(0.76)
CEPH (CEU) - Not Available
EAS
C (0.49)
(0.51)
African American
G (0.08)
(0.92)
YRI (Yoruba) - Not Available
SAS
G (0.28)
(0.72)
Japanese
C (0.47)
(0.53)
CHB (Han Chinese) - Not Available
AFR
G (0.03)
(0.97)
Chinese
C (0.41)
(0.59)
JPT (Japanese) - Not Available
EUR
G (0.25)
(0.75)
AMR
G (0.30)
(0.70)
UGT1A8 - UDP glucuronosyltransferase family 1 member A8
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_019076.4 581 Missense Mutation GCT,GGT A,G 173 NP_061949.3

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