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 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
IVD | NM_001159508.1 | 11 | 1584 | NP_001152980.1 |
NM_002225.3 | 12 | 1674 | NP_002216.2 | |
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_017022152.1 | 12 | 1455 | XP_016877641.1 | |
XM_017022153.1 | XP_016877642.1 | |||
XM_017022154.1 | 12 | 1596 | XP_016877643.1 | |
XM_017022155.1 | XP_016877644.1 | |||
XM_017022156.1 | 12 | 1741 | XP_016877645.1 | |
XM_017022157.1 | XP_016877646.1 | |||
AF070531.1 | 4 | 708 | ||
AK022777.1 | 1 | 735 | ||
AK092168.1 | ||||
AK122922.1 | 11 | 1274 | ||
BC017202.2 | 12 | 1342 | AAH17202.1 | |
M34192.1 | 12 | 1346 | AAA52711.1 |
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 | KNSTRN PLCB2 C15orf52 BUB1B-PAK6 PHGR1 DISP2 PAK6 INAFM2 ANKRD63 IVD |
esv34145 | Chr.15:40257416 - 40597626 on Build GRCh38 | Loss | C15orf57 C15orf52 CHST14 BAHD1 PHGR1 DISP2 RPUSD2 ANKRD63 IVD KNSTRN PLCB2 KNL1 BUB1B-PAK6 MRPL42P5 PAK6 INAFM2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |