Assay Details
Target Gene Details
Entrez Gene ID: | 55768 |
Gene Name: | N-glycanase 1 |
Gene Aliases: |
CDDG, CDG1V, PNG1, PNGase |
Location: |
Chr.3:25718944-25790039 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NGLY1 | NM_001145294.1 | NP_001138766.1 | ||
AK296047.1 | ||||
DC329733.1 |
Target Gene Details
Entrez Gene ID: | 54995 |
Gene Name: | 3-oxoacyl-ACP synthase, mitochondrial |
Gene Aliases: |
FASN2D, KASI, KS |
Location: |
Chr.3:25783661-25794534 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OXSM | XM_006713216.3 | 1 | 2286 | XP_006713279.1 |
XM_006713217.3 | 1 | 2286 | XP_006713280.1 | |
XM_017006713.1 | 1 | 2286 | XP_016862202.1 | |
XM_017006714.1 | 1 | 2286 | XP_016862203.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3893676 | Chr.3:24984204 - 26577498 on Build GRCh38 | Loss | RARB MIR4442 OXSM NGLY1 LINC00692 TOP2B LOC105376997 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |