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: | Overlaps Intron 6 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMGNT1 | NM_001243766.1 | NP_001230695.1 | ||
NM_001290129.1 | NP_001277058.1 | |||
NM_001290130.1 | NP_001277059.1 | |||
NM_017739.3 | NP_060209.3 | |||
XM_005271010.1 | XP_005271067.1 | |||
XM_006710755.1 | XP_006710818.1 | |||
XM_006710756.1 | XP_006710819.1 | |||
XM_011541760.2 | XP_011540062.1 | |||
XM_017001690.1 | XP_016857179.1 | |||
AB057356.1 | BAB71960.1 | |||
AF250859.2 | AAF71270.2 | |||
AK000284.1 | BAA91053.1 | |||
AK056186.1 | ||||
AK225033.1 | ||||
AK301923.1 | ||||
AK302379.1 | ||||
AK316399.1 | ||||
AY358592.1 | AAQ88955.1 | |||
BC001471.2 | AAH01471.1 | |||
CR749700.1 | CAH18478.2 | |||
DA187331.1 |
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 | TSPAN1 LURAP1 NSUN4 RAD54L LRRC41 UQCRH POMGNT1 |
esv2761743 | Chr.1:45874186 - 46561071 on Build GRCh38 | Gain | MAST2 FAAH KNCN LURAP1 MKNK1 FAAHP1 PIK3R3 TSPAN1 NSUN4 RAD54L LOC101929626 LINC01398 MKNK1-AS1 DMBX1 LRRC41 UQCRH POMGNT1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |