Assay Details
Target Gene Details
Entrez Gene ID: | 55624 |
Gene Name: | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Gene Aliases: |
GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2 |
Location: |
Chr.1:46188681-46220305 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMGNT1 | NM_001243766.1 | NP_001230695.1 | ||
AK056186.1 | ||||
CR749700.1 | CAH18478.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470711 | Chr.1:46194623 - 46344858 on Build GRCh38 | Gain | RAD54L UQCRH POMGNT1 TSPAN1 LURAP1 NSUN4 LRRC41 |
esv2761743 | Chr.1:45874186 - 46561071 on Build GRCh38 | Gain | RAD54L DMBX1 UQCRH PIK3R3 POMGNT1 MAST2 NSUN4 FAAH MKNK1 LOC101929626 TSPAN1 LURAP1 LINC01398 KNCN LRRC41 FAAHP1 MKNK1-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |