Assay Details
Target Gene Details
Entrez Gene ID: | 64921 |
Gene Name: | CAS1 domain containing 1 |
Gene Aliases: |
C7orf12, NBLA04196 |
Location: |
Chr.7:94509858-94633465 on Build GRCh38 |
Assay Gene Location: | Within Intron 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CASD1 | XM_011516495.2 | XP_011514797.1 |
Target Gene Details
Entrez Gene ID: | 8910 |
Gene Name: | sarcoglycan epsilon |
Gene Aliases: |
DYT11, ESG |
Location: |
Chr.7:94585224-94656209 on Build GRCh38 |
Assay Gene Location: | Within Intron 15 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422248 | Chr.7:94543833 - 94955318 on Build GRCh38 | Duplication | CASD1 PEG10 SGCE PPP1R9A |
nsv1023193 | Chr.7:93602376 - 95828660 on Build GRCh38 | Gain | CASD1 PON2 PON3 PDK4 SGCE PPP1R9A LOC105375405 GNG11 PEG10 TFPI2 MIR4652 BET1 ASB4 GNGT1 COL1A2 LOC105375401 PON1 DYNC1I1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |