Product Details

SNP ID
rs78518984
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:43079537 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTATCTCTAGGGCAAAGAGGAGTG[A/C]TGTGACACCACACCCCAGAGACAAC
Phenotype
MIM: 614828
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
POMGNT2 PubMed Links

Gene Details

Gene
POMGNT2
Gene Name
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032806.5 2248 UTR 3 NP_116195.2
XM_005265515.2 2248 UTR 3 XP_005265572.1
XM_011534163.2 2248 UTR 3 XP_011532465.1
XM_011534164.1 2248 UTR 3 XP_011532466.1
XM_017007353.1 2248 UTR 3 XP_016862842.1

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