Assay Details
Target Gene Details
Entrez Gene ID: | 3032 |
Gene Name: | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit |
Gene Aliases: |
ECHB, MSTP029, MTPB, TP-BETA |
Location: |
Chr.2:26244748-26290465 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HADHB | NM_000183.2 | NP_000174.1 | ||
NM_001281512.1 | NP_001268441.1 | |||
NM_001281513.1 | NP_001268442.1 | |||
XM_011532803.1 | XP_011531105.1 | |||
XM_017003939.1 | XP_016859428.1 | |||
AF113209.1 | AAG39280.1 | |||
AK130072.1 | ||||
AK293142.1 | ||||
AK302322.1 | ||||
AK304455.1 | ||||
AK314455.1 | ||||
BC014572.1 | AAH14572.1 | |||
BC017564.2 | AAH17564.1 | |||
BC030824.1 | AAH30824.1 | |||
BC066963.1 | AAH66963.1 | |||
D16481.1 | BAA03942.1 | |||
DA067388.1 | ||||
DA835045.1 | ||||
DB477128.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3583674 | Chr.2:26250470 - 26262026 on Build GRCh38 | Loss | HADHB |
esv33316 | Chr.2:25440017 - 26672800 on Build GRCh38 | Loss | OTOF ADGRF3 GAREM2 HADHA DRC1 HADHB CIB4 C2orf70 EPT1 RAB10 DTNB KIF3C ASXL2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |