Assay Details
Target Gene Details
Entrez Gene ID: | 8557 |
Gene Name: | titin-cap |
Gene Aliases: |
CMD1N, CMH25, LGMD2G, T-cap, TELE, telethonin |
Location: |
Chr.17:39665346-39666554 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| TCAP | NM_003673.3 | 2 | 289 | NP_003664.1 |
| AJ000491.1 | 2 | 285 | CAA04129.1 | |
| AK096328.1 | 2 | 1448 | ||
| BC012628.1 | 2 | 290 | AAH12628.1 | |
| BC013330.1 | 2 | 290 | AAH13330.1 | |
| BF670957.1 | 2 | 290 | ||
| DA899335.1 | 2 | 289 | ||
| KU178429.1 | 2 | 275 | ||
| KU178430.1 | 1 | 521 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv574992 | Chr.17:39662308 - 39666058 on Build GRCh38 | Loss |
|
| nsv528093 | Chr.17:39657827 - 39709752 on Build GRCh38 | Loss |
|
| nsv516757 | Chr.17:39625596 - 39678288 on Build GRCh38 | Loss |
|
| nsv574991 | Chr.17:39613752 - 39674782 on Build GRCh38 | Loss |
|
| dgv40n68 | Chr.17:39536627 - 39726611 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map