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 | |||
AK095123.1 | 1 | 267 | ||
AK293872.1 |
Target Gene Details
Entrez Gene ID: | 7259 |
Gene Name: | TSPY like 1 |
Gene Aliases: |
TSPYL |
Location: |
Chr.6:116274859-116280117 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSPYL1 | NM_003309.3 | 1 | 709 | NP_003300.1 |
AJ420580.1 | ||||
AL136629.1 | 1 | 520 | CAB66564.1 | |
BC048969.1 | 1 | 522 | AAH48969.1 | |
CR533535.1 | 1 | 422 | CAG38566.1 |
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 | LOC100287467 COL10A1 NT5DC1 DSE TSPYL4 TSPYL1 FRK |
nsv523972 | Chr.6:115958024 - 116809541 on Build GRCh38 | Gain | TRAPPC3L FAM26E FAM162B FAM26D RWDD1 COL10A1 TSPYL1 KPNA5 TPI1P3 FAM26F LOC100287467 RSPH4A ZUFSP NT5DC1 DSE TSPYL4 GPRC6A FRK |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |