Product Details

SNP ID
rs138991752
Assay Type
Functionally Tested
NCBI dbSNP Submissions
6
Location
Chr.1:1242860 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGCTGCAGCAGCCCCTGCACC[G/T]GTAGCGTGAAGACCCTGCTGTTGCT
Phenotype
MIM: 615291 MIM: 616593
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
B3GALT6 PubMed Links
Additional Information
For this assay, SNP(s) [rs11260566,rs74511182] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
B3GALT6
Gene Name
beta-1,3-galactosyltransferase 6
There are no transcripts associated with this gene.

Gene
FAM132A
Gene Name
family with sequence similarity 132 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014980.2 911 Missense Mutation CAG,CCG Q262P NP_001014980.1
XM_011541435.2 911 Silent Mutation AGG,CGG R267R XP_011539737.1
XM_011541436.2 911 Silent Mutation AGG,CGG R261R XP_011539738.1
XM_011541437.1 911 Silent Mutation AGG,CGG R195R XP_011539739.1

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