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 Intron 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
IVD | XM_005254350.2 | XP_005254407.1 | ||
XM_006720492.2 | XP_006720555.1 | |||
XM_006720495.2 | XP_006720558.1 | |||
XM_017022149.1 | XP_016877638.1 | |||
XM_017022150.1 | XP_016877639.1 | |||
XM_017022151.1 | XP_016877640.1 | |||
XM_017022153.1 | XP_016877642.1 | |||
XM_017022157.1 | XP_016877646.1 |
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 | PAK6 PHGR1 BUB1B-PAK6 KNSTRN ANKRD63 DISP2 PLCB2 INAFM2 IVD C15orf52 |
esv34145 | Chr.15:40257416 - 40597626 on Build GRCh38 | Loss | BAHD1 PHGR1 RPUSD2 DISP2 PLCB2 IVD CHST14 KNL1 PAK6 BUB1B-PAK6 KNSTRN ANKRD63 C15orf57 INAFM2 MRPL42P5 C15orf52 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |