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 Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
KDSR | NM_002035.2 | NP_002026.1 | ||
XM_005266677.2 | XP_005266734.1 | |||
XM_017025690.1 | XP_016881179.1 | |||
AK025120.1 | ||||
AK126679.1 | ||||
AK297670.1 | ||||
AK312360.1 | ||||
BT006782.1 | AAP35428.1 | |||
X63657.1 | CAA45197.1 |
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 | BCL2 KDSR |
nsv1066552 | Chr.18:63147299 - 64608176 on Build GRCh38 | Gain | SERPINB4 SERPINB8 SERPINB12 BCL2 SERPINB7 LOC284294 HMSD SERPINB11 VPS4B SERPINB5 SERPINB13 SERPINB2 SERPINB10 LINC00305 KDSR SERPINB3 LINC01538 |
More Information
Additional Information:
For this assay, SNP(s) [rs74462079,rs75800005] 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 Intronic Non-exonic DGV Variation |