Genomic Map
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Target Gene Details
Entrez Gene ID: | 10747 |
Gene Name: | mannan binding lectin serine peptidase 2 |
Gene Aliases: |
MAP19, MASP-2, MASP1P1, sMAP |
Location: |
Chr.1:11026523-11047239 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| MASP2 | NM_006610.3 | 11 | 2236 | NP_006601.2 |
| AK290823.1 | ||||
| X98400.1 | 11 | 2240 | CAA67050.1 | |
| Y09926.1 | 11 | 2220 | CAA71059.1 |
Target Gene Details
Entrez Gene ID: | 23435 |
Gene Name: | TAR DNA binding protein |
Gene Aliases: |
ALS10, TDP-43 |
Location: |
Chr.1:11012622-11030528 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TARDBP | XM_017000863.1 | XP_016856352.1 | ||
| XM_017000864.1 | XP_016856353.1 | |||
| XM_017000865.1 | XP_016856354.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv832425 | Chr.1:10843788 - 11062918 on Build GRCh38 | Loss |
 MASP2
C1orf127
TARDBP
SRM
|
| nsv545407 | Chr.1:11000018 - 11377969 on Build GRCh38 | Gain |
MASP2
MTOR
MTOR-AS1
TARDBP
UBIAD1
ANGPTL7
LOC105376736
EXOSC10
SRM
|
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Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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