Assay Details
Target Gene Details
Entrez Gene ID: | 10715 |
Gene Name: | ceramide synthase 1 |
Gene Aliases: |
EPM8, LAG1, LASS1, UOG1 |
Location: |
Chr.19:18868546-18896727 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CERS1 | NM_021267.4 | 8 | 2228 | NP_067090.1 |
Target Gene Details
Entrez Gene ID: | 2657 |
Gene Name: | growth differentiation factor 1 |
Gene Aliases: |
DORV, DTGA3, RAI |
Location: |
Chr.19:18868546-18896144 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GDF1 | NM_001492.5 | 8 | 2228 | NP_001483.3 |
M62302.1 | 8 | 2180 | AAA58501.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv828473 | Chr.19:18864321 - 18884066 on Build GRCh38 | Gain | CERS1 GDF1 UPF1 |
nsv470132 | Chr.19:18853633 - 18943911 on Build GRCh38 | Loss | COPE HOMER3 LOC102724360 CERS1 GDF1 DDX49 UPF1 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | HAPLN4 CRTC1 NCAN COMP CERS1 RFXANK GDF1 DDX49 SUGP2 UPF1 ARMC6 BORCS8-MEF2B NR2C2AP MEF2B SUGP1 COPE HOMER3 LOC102724360 SLC25A42 BORCS8 KLHL26 TM6SF2 TMEM161A |
nsv952423 | Chr.19:18859292 - 18941091 on Build GRCh38 | Deletion | COPE HOMER3 LOC102724360 CERS1 GDF1 DDX49 UPF1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | CRTC1 COMP COPE CERS1 GDF1 DDX49 UPF1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |