Product Details

SNP ID
rs146175246
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:43997726 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCAGTCTCTGCTTGGCTTTGTG[A/G]CATTTTTCAAACGCTGCATGAGGTA
Phenotype
MIM: 604013 MIM: 601019
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
B4GALT2 PubMed Links

Gene Details

Gene
B4GALT2
Gene Name
beta-1,4-galactosyltransferase 2
There are no transcripts associated with this gene.

Gene
CCDC24
Gene Name
coiled-coil domain containing 24
There are no transcripts associated with this gene.

Gene
SLC6A9
Gene Name
solute carrier family 6 member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001024845.2 2147 Missense Mutation GCC,GTC A574V NP_001020016.1
NM_001261380.1 2147 Missense Mutation GCC,GTC A578V NP_001248309.1
NM_006934.3 2147 Missense Mutation GCC,GTC A593V NP_008865.2
NM_201649.3 2147 Missense Mutation GCC,GTC A647V NP_964012.2
XM_011542017.2 2147 Intron XP_011540319.1
XM_017002151.1 2147 Missense Mutation GCC,GTC A574V XP_016857640.1
XM_017002152.1 2147 Missense Mutation GCC,GTC A547V XP_016857641.1
XM_017002153.1 2147 Missense Mutation GCC,GTC A536V XP_016857642.1

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