Product Details

SNP ID
rs1137654
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:98808054 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCACTGCACCGCCGCCTGCCCG[A/T]GCGCTGGAACCCGCTGTGAGTGCAC
Phenotype
MIM: 610290
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GALNT12 PubMed Links

Gene Details

Gene
GALNT12
Gene Name
polypeptide N-acetylgalactosaminyltransferase 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024642.4 35 Missense Mutation GAG,GTG E119V NP_078918.3
XM_006717287.1 35 UTR 5 XP_006717350.1
XM_011519018.2 35 Intron XP_011517320.1
XM_011519020.1 35 UTR 5 XP_011517322.1
XM_017015133.1 35 Intron XP_016870622.1

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