Assay Details
Target Gene Details
Entrez Gene ID: | 3988 |
Gene Name: | lipase A, lysosomal acid type |
Gene Aliases: |
CESD, LAL |
Location: |
Chr.10:89213569-89252039 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| LIPA | NM_000235.3 | 10 | 1402 | NP_000226.2 |
| NM_001127605.2 | 10 | 1301 | NP_001121077.1 | |
| NM_001288979.1 | 8 | 1172 | NP_001275908.1 | |
| AK091558.1 | 11 | 1775 | ||
| AK096406.1 | 9 | 1151 | ||
| AK125193.1 | 9 | 1394 | BAC86078.1 | |
| AK130882.1 | 8 | 728 | ||
| AK222760.1 | 10 | 1138 | BAD96480.1 | |
| AK290241.1 | 10 | 1138 | ||
| AK293491.1 | 5 | 581 | ||
| AK297079.1 | 7 | 677 | ||
| AK314665.1 | 10 | 1168 | ||
| BC012287.1 | 10 | 1198 | AAH12287.1 | |
| M74775.1 | 10 | 1138 | AAA59519.1 | |
| U08464.1 | 10 | 1131 | AAB60328.1 | |
| X76488.1 | 10 | 1243 | CAA54026.1 | |
| Z31690.1 | 10 | 1131 | CAA83495.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv517170 | Chr.10:89171845 - 89215450 on Build GRCh38 | Loss |
|
| nsv551858 | Chr.10:89180930 - 89215450 on Build GRCh38 | Loss |
|
| dgv951n100 | Chr.10:89202275 - 89219336 on Build GRCh38 | Loss |
|
| nsv1038123 | Chr.10:89194660 - 89232372 on Build GRCh38 | Loss |
|
| dgv273e212 | Chr.10:89213159 - 89217406 on Build GRCh38 | Loss |
|
| esv2759775 | Chr.10:89075307 - 89257729 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map