Product Details

SNP ID
rs112223093
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:62616594 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTCCAGGTGGCCCCGGGGAGCG[G/T]TGGAATCAAATTGGGCATTGGGCTT
Phenotype
MIM: 606374 MIM: 104160 MIM: 180721
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
B3GAT3 PubMed Links

Gene Details

Gene
B3GAT3
Gene Name
beta-1,3-glucuronyltransferase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288721.1 1049 Missense Mutation AAC,ACC N267T NP_001275650.1
NM_001288722.1 1049 Missense Mutation AAC,ACC N274T NP_001275651.1
NM_001288723.1 1049 Missense Mutation AAC,ACC N274T NP_001275652.1
NM_012200.3 1049 Missense Mutation AAC,ACC N274T NP_036332.2
Gene
EML3
Gene Name
echinoderm microtubule associated protein like 3
There are no transcripts associated with this gene.

Gene
GANAB
Gene Name
glucosidase II alpha subunit
There are no transcripts associated with this gene.

Gene
ROM1
Gene Name
retinal outer segment membrane protein 1
There are no transcripts associated with this gene.

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