Assay Details
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 | 1386 | NP_006601.2 |
AK290823.1 | 11 | 1386 | ||
X98400.1 | 11 | 1390 | CAA67050.1 | |
Y09926.1 | 11 | 1370 | 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 | TARDBP C1orf127 MASP2 SRM |
nsv545407 | Chr.1:11000018 - 11377969 on Build GRCh38 | Gain | LOC105376736 MTOR TARDBP MTOR-AS1 UBIAD1 ANGPTL7 MASP2 SRM EXOSC10 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |