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 | 2737 | NP_031401.1 |
XM_017000863.1 | 6 | 2725 | XP_016856352.1 | |
XM_017000864.1 | 6 | 2725 | XP_016856353.1 | |
XM_017000865.1 | 6 | 2725 | XP_016856354.1 | |
XM_017000866.1 | XP_016856355.1 | |||
XM_017000867.1 | XP_016856356.1 | |||
XM_017000868.1 | XP_016856357.1 | |||
AL045296.1 | 1 | 228 | ||
AL050265.1 | CAB43367.1 | |||
BC071657.1 | AAH71657.1 | |||
BC095435.1 | AAH95435.1 |
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 | C1orf127 SRM TARDBP MASP2 |
nsv945768 | Chr.1:11022157 - 11024068 on Build GRCh38 | Duplication | TARDBP |
nsv545407 | Chr.1:11000018 - 11377969 on Build GRCh38 | Gain | MTOR-AS1 MTOR LOC105376736 EXOSC10 ANGPTL7 UBIAD1 SRM TARDBP MASP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |