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 Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CERS1 | NM_021267.4 | 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 Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GDF1 | NM_001492.5 | NP_001483.3 | ||
M62302.1 | 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 | GDF1 CERS1 UPF1 |
nsv470132 | Chr.19:18853633 - 18943911 on Build GRCh38 | Loss | DDX49 GDF1 LOC102724360 COPE HOMER3 CERS1 UPF1 |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | NR2C2AP CRTC1 LOC102724360 SLC25A42 COMP SUGP2 COPE HOMER3 HAPLN4 TMEM161A MEF2B NCAN KLHL26 DDX49 GDF1 RFXANK BORCS8-MEF2B SUGP1 ARMC6 BORCS8 TM6SF2 CERS1 UPF1 |
nsv952423 | Chr.19:18859292 - 18941091 on Build GRCh38 | Deletion | DDX49 GDF1 LOC102724360 COPE HOMER3 CERS1 UPF1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | DDX49 CRTC1 GDF1 COMP COPE CERS1 UPF1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |