Assay Details
Target Gene Details
Entrez Gene ID: | 7273 |
Gene Name: | titin |
Gene Aliases: |
CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD |
Location: |
Chr.2:178525989-178807423 on Build GRCh38 |
Assay Gene Location: | Within Exon 359 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TTN | NM_001256850.1 | 308 | 100125 | NP_001243779.1 |
NM_001267550.2 | 358 | 105048 | NP_001254479.2 | |
NM_003319.4 | 186 | 77853 | NP_003310.4 | |
NM_133378.4 | 307 | 97344 | NP_596869.4 | |
NM_133432.3 | 187 | 78228 | NP_597676.3 | |
NM_133437.4 | 187 | 78429 | NP_597681.4 | |
XM_017004819.1 | 354 | 103941 | XP_016860308.1 | |
XM_017004820.1 | 331 | 99339 | XP_016860309.1 | |
XM_017004821.1 | 331 | 99336 | XP_016860310.1 | |
XM_017004822.1 | 269 | 96378 | XP_016860311.1 | |
XM_017004823.1 | 187 | 77994 | XP_016860312.1 | |
AL713647.1 | 1 | 546 | CAD28458.1 | |
X69490.1 | 20 | 10800 | CAA49245.1 | |
X90568.1 | 186 | 77760 | CAA62188.1 |
Target Gene Details
Entrez Gene ID: | 100506866 |
Gene Name: | TTN antisense RNA 1 |
Gene Aliases: |
- |
Location: |
Chr.2:178522827-178620217 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TTN-AS1 | NR_038271.1 | |||
NR_038272.1 | ||||
AK093733.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834468 | Chr.2:178486389 - 178668898 on Build GRCh38 | Gain | TTN-AS1 TTN PLEKHA3 |
nsv834467 | Chr.2:178393413 - 178566238 on Build GRCh38 | Loss | OSBPL6 TTN-AS1 TTN LOC101927027 FKBP7 PRKRA PLEKHA3 DFNB59 |
nsv522036 | Chr.2:178531033 - 178533782 on Build GRCh38 | Gain | TTN-AS1 TTN |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |