Product Details

SNP ID
rs137853087
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:165749747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATTAATTGCACTGAGGTACCTTCT[G/A]GATCTCCCATATCTGCTCTCCAGTG
Phenotype
MIM: 601756
Polymorphism
G/A, 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 2044 Nonsense Mutation CAG,TAG Q592* NP_004473.2
XM_005246449.1 2044 Nonsense Mutation CAG,TAG Q592* XP_005246506.1
XM_011510929.1 2044 Nonsense Mutation CAG,TAG Q592* XP_011509231.1
XM_017003770.1 2044 Nonsense Mutation CAG,TAG Q592* XP_016859259.1

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