Product Details

SNP ID
rs12748746
Assay Type
Functionally Tested
NCBI dbSNP Submissions
1
Location
Chr.1:1232381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTACCTGGCGCGCTGCGCGGCC[A/G]AGCCCGGGGACCCCAGGGCGATGTC
Phenotype
MIM: 615291 MIM: 614282
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
B3GALT6 PubMed Links

Gene Details

Gene
B3GALT6
Gene Name
beta-1,3-galactosyltransferase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080605.3 133 Missense Mutation AAG,GAG K35E NP_542172.2
Gene
SDF4
Gene Name
stromal cell derived factor 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016176.3 133 Intron NP_057260.2
NM_016547.2 133 Intron NP_057631.1
XM_011541556.1 133 Intron XP_011539858.1

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