Product Details

SNP ID
rs3739112
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:157258312 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGCAGCATAAAAGAGATGAAACCTC[C/T]CCTAAGGGGACATGGGAAAGGGGCA
Phenotype
MIM: 615129
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GALNT5 PubMed Links

Gene Details

Gene
GALNT5
Gene Name
polypeptide N-acetylgalactosaminyltransferase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_017003237.1 765 Missense Mutation CCC,CTC P77L XP_016858726.1
XM_017003238.1 765 Missense Mutation CCC,CTC P77L XP_016858727.1

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