Product Details

SNP ID
rs112941283
Assay Type
Functionally Tested
NCBI dbSNP Submissions
2
Location
Chr.1:1243125 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACACCACGTCCCGGGCCCGCAGC[C/G]GGGCCTTGCCCTGCAGCTCACTGTG
Phenotype
MIM: 615291 MIM: 616593
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
B3GALT6 PubMed Links

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_001014980.2 794 Missense Mutation CCG,CGG P223R NP_001014980.1
XM_011541435.2 794 Missense Mutation CGC,GGC R228G XP_011539737.1
XM_011541436.2 794 Missense Mutation CGC,GGC R222G XP_011539738.1
XM_011541437.1 794 Missense Mutation CGC,GGC R156G XP_011539739.1

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