Assay Details
Target Gene Details
Entrez Gene ID: | 123099 |
Gene Name: | delta 4-desaturase, sphingolipid 2 |
Gene Aliases: |
C14orf66, DES2, FADS8 |
Location: |
Chr.14:100146416-100166886 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DEGS2 | NM_206918.2 | 2 | 650 | NP_996801.2 |
XM_006720043.3 | 3 | 665 | XP_006720106.1 | |
AY541700.1 | 2 | 570 | AAS68362.1 | |
BC063598.1 | 2 | 597 | AAH63598.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv524413 | Chr.14:100141023 - 100171898 on Build GRCh38 | Loss | DEGS2 EVL |
nsv832874 | Chr.14:100068470 - 100218507 on Build GRCh38 | Loss | MIR151B DEGS2 MIR342 EVL |
esv1000926 | Chr.14:100147472 - 100155026 on Build GRCh38 | Deletion | DEGS2 |
nsv527130 | Chr.14:100106617 - 100179544 on Build GRCh38 | Loss | MIR151B DEGS2 MIR342 EVL |
nsv952238 | Chr.14:100112364 - 100161163 on Build GRCh38 | Deletion | DEGS2 EVL |
dgv1969n100 | Chr.14:100120420 - 100198944 on Build GRCh38 | Gain | DEGS2 EVL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |