Assay Details
Target Gene Details
Entrez Gene ID: | 29940 |
Gene Name: | dermatan sulfate epimerase |
Gene Aliases: |
DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2 |
Location: |
Chr.6:116254152-116441261 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DSE | NM_001322937.1 | NP_001309866.1 | ||
NM_001322938.1 | NP_001309867.1 | |||
NM_001322940.1 | NP_001309869.1 | |||
AK293872.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3576211 | Chr.6:116095308 - 116431057 on Build GRCh38 | Gain | DSE TSPYL1 NT5DC1 FRK TSPYL4 COL10A1 LOC100287467 |
nsv523972 | Chr.6:115958024 - 116809541 on Build GRCh38 | Gain | DSE RSPH4A TRAPPC3L FAM26F FRK TSPYL4 COL10A1 ZUFSP KPNA5 LOC100287467 TSPYL1 NT5DC1 GPRC6A FAM162B FAM26E FAM26D RWDD1 TPI1P3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |