Assay Details
Target Gene Details
Entrez Gene ID: | 10585 |
Gene Name: | protein O-mannosyltransferase 1 |
Gene Aliases: |
LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT |
Location: |
Chr.9:131502895-131523806 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 3 - Intron 4 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831742 | Chr.9:131495115 - 131647330 on Build GRCh38 | Loss | LOC642515 UCK1 PRRC2B POMT1 RAPGEF1 |
esv2759718 | Chr.9:131395735 - 131603563 on Build GRCh38 | Gain | SNORD62A LOC642515 UCK1 PRRC2B SNORD62B POMT1 RAPGEF1 |
nsv818728 | Chr.9:131397036 - 131533047 on Build GRCh38 | Gain | SNORD62A UCK1 PRRC2B SNORD62B POMT1 |
nsv831740 | Chr.9:131317894 - 131517324 on Build GRCh38 | Loss | SNORD62A PRRC2B SNORD62B POMT1 |
nsv517936 | Chr.9:131467551 - 131533047 on Build GRCh38 | Loss | SNORD62A UCK1 PRRC2B SNORD62B POMT1 |
nsv615563 | Chr.9:131487491 - 131566642 on Build GRCh38 | Loss | LOC642515 UCK1 PRRC2B SNORD62B POMT1 |
dgv1512e214 | Chr.9:131418462 - 131577569 on Build GRCh38 | Gain | SNORD62A LOC642515 UCK1 PRRC2B SNORD62B POMT1 RAPGEF1 |
esv34928 | Chr.9:131414521 - 131565542 on Build GRCh38 | Gain | SNORD62A LOC642515 UCK1 PRRC2B SNORD62B POMT1 |
nsv831741 | Chr.9:131429364 - 131563388 on Build GRCh38 | Loss | SNORD62A LOC642515 UCK1 PRRC2B SNORD62B POMT1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |