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 | 1932 | NP_000226.2 |
NM_001127605.2 | 10 | 1831 | NP_001121077.1 | |
NM_001288979.1 | 8 | 1702 | NP_001275908.1 | |
AK091558.1 | 12 | 2153 | ||
AK096406.1 | 9 | 1681 | ||
AK125193.1 | 9 | 1924 | BAC86078.1 | |
AK130882.1 | 8 | 1258 | ||
AK222760.1 | 10 | 1668 | BAD96480.1 | |
AK290241.1 | 10 | 1668 | ||
BC012287.1 | 10 | 1728 | AAH12287.1 | |
M74775.1 | 10 | 1668 | AAA59519.1 | |
U08464.1 | 10 | 1661 | AAB60328.1 | |
X76488.1 | 10 | 1773 | CAA54026.1 | |
Z31690.1 | 10 | 1661 | 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 | LIPA CH25H |
nsv551858 | Chr.10:89180930 - 89215450 on Build GRCh38 | Loss | LIPA CH25H |
dgv951n100 | Chr.10:89202275 - 89219336 on Build GRCh38 | Loss | LIPA CH25H |
nsv1038123 | Chr.10:89194660 - 89232372 on Build GRCh38 | Loss | LIPA CH25H |
dgv273e212 | Chr.10:89213159 - 89217406 on Build GRCh38 | Loss | LIPA |
esv2759775 | Chr.10:89075307 - 89257729 on Build GRCh38 | Loss | LIPA CH25H |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |