Genomic Map
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Target Gene Details
Entrez Gene ID: | 5160 |
Gene Name: | pyruvate dehydrogenase (lipoamide) alpha 1 |
Gene Aliases: |
PDHA, PDHAD, PDHCE1A, PHE1A |
Location: |
Chr.X:19343893-19361707 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PDHA1 | NM_000284.3 | 11 | 1362 | NP_000275.1 |
| NM_001173454.1 | 12 | 1476 | NP_001166925.1 | |
| NM_001173455.1 | 11 | 1383 | NP_001166926.1 | |
| NM_001173456.1 | 10 | 1269 | NP_001166927.1 | |
| XM_017029574.1 | 11 | 1370 | XP_016885063.1 | |
| AK129887.1 | 11 | 1297 | ||
| AK222740.1 | 11 | 1293 | BAD96460.1 | |
| AK222988.1 | 11 | 1327 | BAD96708.1 | |
| AK293250.1 | ||||
| AK296341.1 | 11 | 1349 | ||
| AK296457.1 | 10 | 1183 | ||
| BC002406.1 | 11 | 1274 | AAH02406.1 | |
| BU170389.1 | 1 | 75 | ||
| EF576990.1 | 8 | 831 | ||
| EF590116.1 | 5 | 1012 | ||
| J03503.1 | 11 | 1289 | AAA60055.1 | |
| J03575.1 | 11 | 1262 | AAA60050.1 | |
| L13318.1 | 11 | 1322 | AAA60227.1 | |
| L48690.1 | 11 | 1322 | AAB59581.1 | |
| M24848.1 | 11 | 1260 | AAA36533.1 | |
| X52709.1 | 11 | 1271 | CAA36933.1 | |
| X52710.1 | 11 | 1273 | CAA36934.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3573627 | Chr.X:19351701 - 19362562 on Build GRCh38 | Loss |
 MAP3K15
PDHA1
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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