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 | NP_001152980.1 | ||
NM_002225.3 | 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 | XP_016877641.1 | |||
XM_017022153.1 | XP_016877642.1 | |||
XM_017022154.1 | 1 | 258 | XP_016877643.1 | |
XM_017022155.1 | XP_016877644.1 | |||
XM_017022156.1 | 1 | 490 | XP_016877645.1 | |
XM_017022157.1 | XP_016877646.1 | |||
XM_017022158.1 | XP_016877647.1 | |||
AK122922.1 | ||||
AK315296.1 | ||||
BC017202.2 | AAH17202.1 | |||
BT007145.1 | AAP35809.1 | |||
KU178150.1 | ||||
KU178151.1 | ||||
KU178152.1 | ||||
M34192.1 | 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 | ANKRD63 KNSTRN BUB1B-PAK6 DISP2 IVD INAFM2 PAK6 C15orf52 PLCB2 PHGR1 |
esv34145 | Chr.15:40257416 - 40597626 on Build GRCh38 | Loss | KNSTRN MRPL42P5 KNL1 BUB1B-PAK6 DISP2 IVD INAFM2 PAK6 RPUSD2 C15orf57 ANKRD63 BAHD1 CHST14 C15orf52 PLCB2 PHGR1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |