Assay Details
Target Gene Details
Entrez Gene ID: | 593 |
Gene Name: | branched chain keto acid dehydrogenase E1, alpha polypeptide |
Gene Aliases: |
BCKDE1A, MSU, MSUD1, OVD1A |
Location: |
Chr.19:41397789-41425005 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BCKDHA | NM_000709.3 | 2 | 247 | NP_000700.1 |
NM_001164783.1 | 2 | 247 | NP_001158255.1 | |
AB209828.1 | 2 | 208 | BAD93065.1 | |
AK298188.1 | 2 | 149 | ||
AK313300.1 | 2 | 215 | ||
AL833143.1 | 2 | 219 | CAH56215.1 | |
BC007878.2 | 2 | 213 | AAH07878.1 | |
BC008933.2 | 2 | 209 | AAH08933.1 | |
BC023983.1 | 2 | 222 | AAH23983.1 | |
BI910860.1 | 2 | 248 | ||
J04474.1 | 2 | 205 | AAB59549.1 | |
M22221.1 | AAA35590.1 | |||
Z14093.1 | 2 | 221 | CAA78475.1 |
More Information
Set Membership: |
Intragenic Exonic non-DGV Variation |