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 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DDX49 | NM_019070.4 | 13 | 1399 | NP_061943.2 |
NR_033677.1 | 13 | 1328 | ||
XM_011528083.1 | 14 | 1447 | XP_011526385.1 | |
XM_011528084.2 | 14 | 1391 | XP_011526386.1 | |
AK001294.1 | 13 | 1347 | BAA91606.1 | |
AK223294.1 | 13 | 1342 | BAD97014.1 | |
AK291916.1 | 13 | 1359 | ||
AU148229.1 | 1 | 438 | ||
BC000979.3 | 14 | 1452 | AAH00979.2 | |
BC002674.2 | 13 | 1389 | AAH02674.1 | |
BX647408.1 | 14 | 1266 |
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 | GDF1 DDX49 LOC102724360 UPF1 CERS1 COPE HOMER3 |
nsv833778 | Chr.19:18901860 - 19090678 on Build GRCh38 | Loss | SLC25A42 DDX49 LOC102724360 ARMC6 COPE HOMER3 SUGP2 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | NR2C2AP TMEM161A GDF1 COMP SUGP1 TM6SF2 CRTC1 MEF2B DDX49 LOC102724360 CERS1 HAPLN4 SUGP2 RFXANK SLC25A42 NCAN BORCS8 KLHL26 ARMC6 UPF1 BORCS8-MEF2B COPE HOMER3 |
nsv952423 | Chr.19:18859292 - 18941091 on Build GRCh38 | Deletion | GDF1 DDX49 LOC102724360 UPF1 CERS1 COPE HOMER3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |