Product Details

SNP ID
rs200031817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:165754712 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCCAACATCCAGACATAGAGGC[C/T]GACCAACGCTTTTAATCTAAAGGAA
Phenotype
MIM: 601756
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GALNT3 PubMed Links

Gene Details

Gene
GALNT3
Gene Name
polypeptide N-acetylgalactosaminyltransferase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004482.3 1811 Missense Mutation CAG,CGG Q514R NP_004473.2
XM_005246449.1 1811 Missense Mutation CAG,CGG Q514R XP_005246506.1
XM_011510929.1 1811 Missense Mutation CAG,CGG Q514R XP_011509231.1
XM_017003770.1 1811 Missense Mutation CAG,CGG Q514R XP_016859259.1

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