Assay Details
Target Gene Details
Entrez Gene ID: | 2531 |
Gene Name: | 3-ketodihydrosphingosine reductase |
Gene Aliases: |
DHSR, FVT1, SDR35C1 |
Location: |
Chr.18:63327736-63367273 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KDSR | NM_002035.2 | 10 | 3142 | NP_002026.1 |
XM_005266677.2 | 9 | 3007 | XP_005266734.1 | |
XM_017025690.1 | 10 | 3347 | XP_016881179.1 | |
AK093874.1 | 1 | 724 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv577096 | Chr.18:63311353 - 63347135 on Build GRCh38 | Loss | KDSR BCL2 |
nsv1066552 | Chr.18:63147299 - 64608176 on Build GRCh38 | Gain | SERPINB5 SERPINB8 SERPINB12 BCL2 HMSD SERPINB11 LINC01538 SERPINB13 LINC00305 SERPINB2 LOC284294 SERPINB4 VPS4B SERPINB7 KDSR SERPINB10 SERPINB3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |