Product Details

SNP ID
rs144799574
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:43079918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAAGGTTCCATGGGATCTGCCAG[C/G]AGACAGTGAGGCGGGCCTCGGAGGC
Phenotype
MIM: 614828
Polymorphism
C/G, 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 1867 Missense Mutation TCC,TGC S505C NP_116195.2
XM_005265515.2 1867 Missense Mutation TCC,TGC S505C XP_005265572.1
XM_011534163.2 1867 Missense Mutation TCC,TGC S505C XP_011532465.1
XM_011534164.1 1867 Missense Mutation TCC,TGC S505C XP_011532466.1
XM_017007353.1 1867 Missense Mutation TCC,TGC S505C XP_016862842.1

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