Assay Details
Target Gene Details
Entrez Gene ID: | 1629 |
Gene Name: | dihydrolipoamide branched chain transacylase E2 |
Gene Aliases: |
BCATE2, BCKAD-E2, BCKADE2, BCOADC-E2, E2, E2B |
Location: |
Chr.1:100186922-100249864 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DBT | NM_001918.3 | 11 | 2800 | NP_001909.3 |
XM_005270545.3 | 12 | 2998 | XP_005270602.1 | |
XM_017000468.1 | 13 | 3027 | XP_016855957.1 | |
XM_017000469.1 | 9 | 2455 | XP_016855958.1 | |
AK303941.1 | ||||
X66785.1 | 11 | 2781 | CAA47285.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830804 | Chr.1:100036777 - 100210481 on Build GRCh38 | Gain | SASS6 LRRC39 DBT MFSD14A TRMT13 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |