Assay Details
Target Gene Details
Entrez Gene ID: | 9215 |
Gene Name: | LARGE xylosyl- and glucuronyltransferase 1 |
Gene Aliases: |
LARGE, MDC1D, MDDGA6, MDDGB6 |
Location: |
Chr.22:33162237-33922841 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LARGE1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3893476 | Chr.22:33163488 - 33370369 on Build GRCh38 | Gain | LARGE1 |
esv3568374 | Chr.22:33152451 - 33186805 on Build GRCh38 | Loss | LARGE1 |
nsv1056019 | Chr.22:33131887 - 33261303 on Build GRCh38 | Gain | LARGE1 |