Assay Details
Target Gene Details
Entrez Gene ID: | 9023 |
Gene Name: | cholesterol 25-hydroxylase |
Gene Aliases: |
C25H |
Location: |
Chr.10:89205937-89207314 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CH25H | NM_003956.3 | 1 | 622 | NP_003947.1 |
AF059214.1 | 1 | 610 | AAC97483.1 | |
AK314865.1 | 1 | 627 | ||
BC017843.1 | 1 | 622 | AAH17843.1 | |
BC072430.1 | 1 | 602 | AAH72430.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831944 | Chr.10:89062897 - 89207261 on Build GRCh38 | Gain | MIR4679-2 CH25H MIR4679-1 |
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 |
nsv437127 | Chr.10:89180246 - 89208346 on Build GRCh38 | Loss | CH25H |
esv2759775 | Chr.10:89075307 - 89257729 on Build GRCh38 | Loss | LIPA CH25H |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |