Assay Details
Target Gene Details
Entrez Gene ID: | 54555 |
Gene Name: | DEAD-box helicase 49 |
Gene Aliases: |
R27090_2 |
Location: |
Chr.19:18919675-18928633 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DDX49 | NM_019070.4 | 2 | 224 | NP_061943.2 |
NR_033677.1 | ||||
XM_011528083.1 | 2 | 196 | XP_011526385.1 | |
XM_011528084.2 | XP_011526386.1 | |||
AK001294.1 | 2 | 173 | BAA91606.1 | |
AK223294.1 | 2 | 167 | BAD97014.1 | |
AK291916.1 | 2 | 184 | ||
BC000979.3 | 2 | 172 | AAH00979.2 | |
BC002674.2 | 2 | 214 | AAH02674.1 | |
BP252678.1 | ||||
BX647408.1 | ||||
DA136213.1 | 2 | 224 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470132 | Chr.19:18853633 - 18943911 on Build GRCh38 | Loss | DDX49 LOC102724360 CERS1 UPF1 GDF1 HOMER3 COPE |
nsv833778 | Chr.19:18901860 - 19090678 on Build GRCh38 | Loss | SLC25A42 DDX49 ARMC6 LOC102724360 SUGP2 HOMER3 COPE |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | NR2C2AP DDX49 BORCS8-MEF2B TM6SF2 LOC102724360 COMP KLHL26 CERS1 RFXANK BORCS8 SUGP1 TMEM161A CRTC1 SLC25A42 MEF2B ARMC6 NCAN HAPLN4 UPF1 SUGP2 GDF1 HOMER3 COPE |
nsv952423 | Chr.19:18859292 - 18941091 on Build GRCh38 | Deletion | DDX49 LOC102724360 CERS1 UPF1 GDF1 HOMER3 COPE |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |