Product Details

SNP ID
rs147315371
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:36037894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACCAAACTTTTTGGCTTCTACTC[A/G]GACCATGTTTTCAGGCTGGTCTCCA
Phenotype
MIM: 616384
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UGT3A2 PubMed Links

Gene Details

Gene
UGT3A2
Gene Name
UDP glycosyltransferase family 3 member A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168316.1 1330 Nonsense Mutation CGA,TGA R366* NP_001161788.1
NM_174914.3 1330 Nonsense Mutation CGA,TGA R400* NP_777574.2
XM_011513988.2 1330 Nonsense Mutation CGA,TGA R427* XP_011512290.1
XM_017009150.1 1330 Nonsense Mutation CGA,TGA R362* XP_016864639.1

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