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: | Overlaps Intron 7 - Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DDX49 | NM_019070.4 | NP_061943.2 | ||
NR_033677.1 | ||||
XM_011528083.1 | XP_011526385.1 | |||
XM_011528084.2 | XP_011526386.1 | |||
AK001294.1 | BAA91606.1 | |||
AK223294.1 | BAD97014.1 | |||
AK291916.1 | ||||
AL110272.1 | CAH10729.1 | |||
AL137702.1 | CAH10707.1 | |||
BC000979.3 | AAH00979.2 | |||
BC002674.2 | AAH02674.1 | |||
BX647408.1 |
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 UPF1 LOC102724360 COPE CERS1 HOMER3 GDF1 |
nsv833778 | Chr.19:18901860 - 19090678 on Build GRCh38 | Loss | SLC25A42 DDX49 SUGP2 LOC102724360 ARMC6 COPE HOMER3 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | DDX49 KLHL26 CRTC1 SUGP2 LOC102724360 ARMC6 RFXANK SUGP1 GDF1 MEF2B SLC25A42 TM6SF2 BORCS8-MEF2B NR2C2AP TMEM161A BORCS8 UPF1 NCAN COMP COPE CERS1 HOMER3 HAPLN4 |
nsv952423 | Chr.19:18859292 - 18941091 on Build GRCh38 | Deletion | DDX49 UPF1 LOC102724360 COPE CERS1 HOMER3 GDF1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |