Product Details

SNP ID
rs142431103
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:51357399 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTACATGATGAGGGGCTTCCCCC[C/T]GCGGTTGTTCTCACCCACATCCAGG
Phenotype
MIM: 605148
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GALNT6 PubMed Links

Gene Details

Gene
GALNT6
Gene Name
polypeptide N-acetylgalactosaminyltransferase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007210.3 2088 Missense Mutation CGG,TGG R518W NP_009141.2
XM_005268607.1 2088 Missense Mutation CGG,TGG R518W XP_005268664.1
XM_006719214.2 2088 Missense Mutation CGG,TGG R518W XP_006719277.1
XM_011537819.2 2088 Missense Mutation CGG,TGG R518W XP_011536121.1
XM_011537822.2 2088 Missense Mutation CGG,TGG R518W XP_011536124.1
XM_017018744.1 2088 Missense Mutation CGG,TGG R518W XP_016874233.1
XM_017018745.1 2088 Missense Mutation CGG,TGG R518W XP_016874234.1

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