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 | COL10A1 TSPYL4 TSPYL1 LOC100287467 DSE FRK NT5DC1 |
nsv523972 | Chr.6:115958024 - 116809541 on Build GRCh38 | Gain | COL10A1 FAM26D TSPYL4 TSPYL1 DSE FAM26E KPNA5 FAM26F ZUFSP NT5DC1 RWDD1 FAM162B RSPH4A GPRC6A LOC100287467 TRAPPC3L TPI1P3 FRK |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |