Product Details

SNP ID
rs143453709
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:35954207 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCAAGGCTACACCTAGCCTCATG[A/T]CTTCTTCACCTTCCTGGCCCCACGC
Phenotype
MIM: 616383
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
UGT3A1 PubMed Links

Gene Details

Gene
UGT3A1
Gene Name
UDP glycosyltransferase family 3 member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171873.1 1489 Intron NP_001165344.1
NM_152404.3 1489 Missense Mutation ACA,TCA T523S NP_689617.3
XM_005248243.4 1489 Missense Mutation ACA,TCA T469S XP_005248300.1
XM_011513957.2 1489 Missense Mutation ACA,TCA T492S XP_011512259.1
XM_011513958.2 1489 Missense Mutation ACA,TCA T489S XP_011512260.1
XM_011513959.2 1489 Missense Mutation ACA,TCA T469S XP_011512261.1
XM_011513961.2 1489 Missense Mutation ACA,TCA T410S XP_011512263.1

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