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 Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMGNT1 | NM_001243766.1 | 23 | 2874 | NP_001230695.1 |
NM_001290129.1 | 22 | 2321 | NP_001277058.1 | |
NM_001290130.1 | 22 | 2287 | NP_001277059.1 | |
NM_017739.3 | 22 | 2674 | NP_060209.3 | |
XM_005271010.1 | 22 | 2292 | XP_005271067.1 | |
XM_006710755.1 | 22 | 2257 | XP_006710818.1 | |
XM_006710756.1 | 23 | 2382 | XP_006710819.1 | |
XM_011541760.2 | 21 | 2526 | XP_011540062.1 | |
XM_017001690.1 | 22 | 2634 | XP_016857179.1 | |
AA918249.1 | 1 | 74 | ||
AF250859.2 | 19 | 2263 | AAF71270.2 | |
AK000284.1 | 22 | 2651 | BAA91053.1 | |
AK022727.1 | BAB14207.1 | |||
AK056186.1 | 23 | 2874 | ||
AK302379.1 | ||||
AK316399.1 | ||||
AY358592.1 | 22 | 2639 | AAQ88955.1 | |
BC001471.2 | AAH01471.1 | |||
BM999774.1 | 1 | 80 | ||
BQ448444.1 | 1 | 80 | ||
CR749700.1 | 19 | 3419 | CAH18478.2 |
Target Gene Details
Entrez Gene ID: | 10103 |
Gene Name: | tetraspanin 1 |
Gene Aliases: |
NET1, TM4C, TM4SF |
Location: |
Chr.1:46175077-46196489 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSPAN1 | XM_011540460.2 | XP_011538762.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv527878 | Chr.1:46183374 - 46194623 on Build GRCh38 | Gain | POMGNT1 TSPAN1 |
esv2761743 | Chr.1:45874186 - 46561071 on Build GRCh38 | Gain | LURAP1 NSUN4 FAAH RAD54L KNCN MKNK1 TSPAN1 LOC101929626 UQCRH LRRC41 PIK3R3 FAAHP1 DMBX1 LINC01398 POMGNT1 MAST2 MKNK1-AS1 |
nsv822520 | Chr.1:46184814 - 46196029 on Build GRCh38 | Loss | POMGNT1 TSPAN1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |