Assay Details
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 Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TARDBP | NM_007375.3 | 6 | 3029 | NP_031401.1 |
XM_017000863.1 | 6 | 3017 | XP_016856352.1 | |
XM_017000864.1 | XP_016856353.1 | |||
XM_017000865.1 | XP_016856354.1 | |||
XM_017000866.1 | 7 | 2283 | XP_016856355.1 | |
XM_017000867.1 | XP_016856356.1 | |||
XM_017000868.1 | XP_016856357.1 | |||
AL045296.1 |
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 MASP2 C1orf127 SRM |
nsv545407 | Chr.1:11000018 - 11377969 on Build GRCh38 | Gain | UBIAD1 LOC105376736 TARDBP ANGPTL7 MASP2 EXOSC10 MTOR-AS1 SRM MTOR |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |