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 Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LIPA | NM_000235.3 | NP_000226.2 | ||
NM_001127605.2 | NP_001121077.1 | |||
NM_001288979.1 | NP_001275908.1 | |||
AK091558.1 | ||||
AK096406.1 | ||||
AK125193.1 | BAC86078.1 | |||
AK130882.1 | ||||
AK222760.1 | BAD96480.1 | |||
AK290241.1 | ||||
AK293491.1 | ||||
AK297079.1 | ||||
AK314665.1 | ||||
BC012287.1 | AAH12287.1 | |||
M74775.1 | AAA59519.1 | |||
U08464.1 | AAB60328.1 | |||
X76488.1 | CAA54026.1 | |||
Z31690.1 | CAA83495.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1038123 | Chr.10:89194660 - 89232372 on Build GRCh38 | Loss | CH25H LIPA |
esv2759775 | Chr.10:89075307 - 89257729 on Build GRCh38 | Loss | CH25H LIPA |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |