Assay Details
Target Gene Details
Entrez Gene ID: | 3712 |
Gene Name: | isovaleryl-CoA dehydrogenase |
Gene Aliases: |
ACAD2 |
Location: |
Chr.15:40405485-40435948 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
IVD | NM_001159508.1 | 1 | 191 | NP_001152980.1 |
NM_002225.3 | 1 | 191 | NP_002216.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv510660 | Chr.15:40260705 - 40429684 on Build GRCh38 | Deletion | C15orf52 ANKRD63 PHGR1 PLCB2 PAK6 IVD KNSTRN DISP2 INAFM2 BUB1B-PAK6 |
esv34145 | Chr.15:40257416 - 40597626 on Build GRCh38 | Loss | BAHD1 ANKRD63 PLCB2 PAK6 IVD KNL1 DISP2 INAFM2 BUB1B-PAK6 C15orf52 PHGR1 CHST14 KNSTRN RPUSD2 C15orf57 MRPL42P5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |