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 Exon 2 |
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 | |||
NR_136520.1 | 2 | 2008 | ||
AK093256.1 | 2 | 1887 | ||
AK293872.1 | ||||
BX095954.1 | 1 | 142 | ||
BX489961.1 |
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 COL10A1 TSPYL4 NT5DC1 FRK LOC100287467 |
nsv523972 | Chr.6:115958024 - 116809541 on Build GRCh38 | Gain | DSE TSPYL1 FAM162B FAM26D COL10A1 FAM26F RWDD1 KPNA5 ZUFSP GPRC6A TSPYL4 RSPH4A NT5DC1 TRAPPC3L FRK TPI1P3 FAM26E LOC100287467 |
More Information
Additional Information:
For this assay, SNP(s) [rs80053030] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |