Product Details

SNP ID
rs112888938
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:134382966 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTCGTACCGCAGGCCACCCACG[A/G]AGGCGACGGGCCACACGGACACCCT
Phenotype
MIM: 151290
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
B3GAT1 PubMed Links

Gene Details

Gene
B3GAT1
Gene Name
beta-1,3-glucuronyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018644.3 1189 Missense Mutation TCC,TTC S221F NP_061114.2
NM_054025.2 1189 Missense Mutation TCC,TTC S221F NP_473366.1
XM_005271506.3 1189 Missense Mutation TCC,TTC S234F XP_005271563.1
XM_011542751.2 1189 Missense Mutation TCC,TTC S234F XP_011541053.1
XM_011542753.2 1189 Missense Mutation TCC,TTC S234F XP_011541055.1
XM_017017550.1 1189 Missense Mutation TCC,TTC S221F XP_016873039.1
XM_017017551.1 1189 Missense Mutation TCC,TTC S234F XP_016873040.1
XM_017017552.1 1189 Missense Mutation TCC,TTC S117F XP_016873041.1
Gene
GLB1L2
Gene Name
galactosidase beta 1 like 2
There are no transcripts associated with this gene.

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