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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DSE | NM_001080976.2 | NP_001074445.1 | ||
NM_001322937.1 | NP_001309866.1 | |||
NM_001322938.1 | NP_001309867.1 | |||
NM_001322940.1 | NP_001309869.1 | |||
NR_136521.1 | ||||
NR_136522.1 | ||||
NR_136523.1 | ||||
NR_136524.1 | ||||
XM_017010795.1 | XP_016866284.1 | |||
AK095123.1 | ||||
AK293872.1 | ||||
BC039245.1 | AAH39245.1 | |||
BX110619.1 | ||||
DC333659.1 | ||||
HY012067.1 | ||||
HY050986.1 |
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 | NT5DC1 COL10A1 FRK DSE LOC100287467 TSPYL1 TSPYL4 |
nsv523972 | Chr.6:115958024 - 116809541 on Build GRCh38 | Gain | ZUFSP NT5DC1 TRAPPC3L DSE FAM162B TPI1P3 RWDD1 KPNA5 FAM26E COL10A1 RSPH4A FAM26D GPRC6A FRK LOC100287467 FAM26F TSPYL1 TSPYL4 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |