Product Details

SNP ID: rs143892607
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:43080018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGCCGACTGTCCACTTCTGCTTCC[A/G]TGGTCCTGGCCGGCCCTTCACCACG
Phenotype: MIM: 614828
Polymorphism: A/G, Transition 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	1767	Missense Mutation	CGG,TGG	R472W	NP_116195.2
XM_005265515.2	1767	Missense Mutation	CGG,TGG	R472W	XP_005265572.1
XM_011534163.2	1767	Missense Mutation	CGG,TGG	R472W	XP_011532465.1
XM_011534164.1	1767	Missense Mutation	CGG,TGG	R472W	XP_011532466.1
XM_017007353.1	1767	Missense Mutation	CGG,TGG	R472W	XP_016862842.1