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 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 | 1677 | NP_003300.1 |
AF042181.1 | 1 | 300 | AAC62384.1 | |
AJ420580.1 | ||||
AK026849.1 | 1 | 538 | ||
AL136629.1 | 1 | 1488 | CAB66564.1 | |
BC048969.1 | 1 | 1490 | AAH48969.1 | |
CR533535.1 | 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 NT5DC1 TSPYL1 COL10A1 DSE FRK TSPYL4 |
nsv523972 | Chr.6:115958024 - 116809541 on Build GRCh38 | Gain | TRAPPC3L LOC100287467 KPNA5 NT5DC1 TSPYL1 TPI1P3 COL10A1 RSPH4A FRK FAM162B FAM26F RWDD1 ZUFSP FAM26E GPRC6A DSE TSPYL4 FAM26D |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |