Assay Details
Target Gene Details
Entrez Gene ID: | 594 |
Gene Name: | branched chain keto acid dehydrogenase E1 subunit beta |
Gene Aliases: |
BCKDE1B, BCKDH E1-beta, E1B |
Location: |
Chr.6:80106610-80469088 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BCKDHB | NM_000056.4 | NP_000047.1 | ||
NM_001318975.1 | NP_001305904.1 | |||
NM_183050.3 | NP_898871.1 | |||
NR_134945.1 | ||||
XM_005248756.4 | XP_005248813.1 | |||
XM_011536023.2 | XP_011534325.1 | |||
XM_011536024.2 | XP_011534326.1 | |||
XM_011536025.2 | XP_011534327.1 | |||
XM_011536026.2 | XP_011534328.1 | |||
AK289977.1 | ||||
AK304353.1 | ||||
AK310838.1 | ||||
AK316545.1 | ||||
BC040139.2 | AAH40139.1 | |||
BT020063.1 | AAV38866.1 | |||
DC372349.1 | ||||
M55575.1 | AAA51812.1 | |||
U50708.1 | AAB16763.1 | |||
X52446.1 | CAA36685.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830708 | Chr.6:80134566 - 80287159 on Build GRCh38 | Gain | BCKDHB |
nsv524214 | Chr.6:80144156 - 80182710 on Build GRCh38 | Gain | BCKDHB |
esv3890895 | Chr.6:80076658 - 80233186 on Build GRCh38 | Loss | BCKDHB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |