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 | NP_001230695.1 | ||
NM_001290129.1 | NP_001277058.1 | |||
NM_001290130.1 | NP_001277059.1 | |||
NM_017739.3 | 22 | 2399 | NP_060209.3 | |
XM_005271010.1 | XP_005271067.1 | |||
XM_006710755.1 | XP_006710818.1 | |||
XM_006710756.1 | XP_006710819.1 | |||
XM_011541760.2 | 21 | 2251 | XP_011540062.1 | |
XM_017001690.1 | 22 | 2359 | XP_016857179.1 | |
AB057356.1 | 22 | 2329 | BAB71960.1 | |
AF250859.2 | 19 | 1988 | AAF71270.2 | |
AK000284.1 | 22 | 2376 | BAA91053.1 | |
AK022727.1 | 17 | 1745 | BAB14207.1 | |
AK056186.1 | ||||
AK225033.1 | 22 | 2377 | ||
AK301923.1 | ||||
AK302379.1 | ||||
AK316399.1 | ||||
AY358592.1 | 22 | 2364 | AAQ88955.1 | |
BC001471.2 | 22 | 2393 | AAH01471.1 | |
BM999774.1 | 1 | 355 | ||
BQ448444.1 | 1 | 355 | ||
CB146374.1 | ||||
CR749700.1 | 19 | 3144 | 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 | LRRC41 MKNK1-AS1 POMGNT1 FAAH LINC01398 LOC101929626 MKNK1 PIK3R3 RAD54L UQCRH KNCN LURAP1 FAAHP1 TSPAN1 MAST2 NSUN4 DMBX1 |
nsv822520 | Chr.1:46184814 - 46196029 on Build GRCh38 | Loss | POMGNT1 TSPAN1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |