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: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POMT1 | NM_001077365.1 | 3 | 397 | NP_001070833.1 |
NM_001077366.1 | 2 | 245 | NP_001070834.1 | |
NM_001136113.1 | 3 | 637 | NP_001129585.1 | |
NM_001136114.1 | NP_001129586.1 | |||
NM_007171.3 | 3 | 397 | NP_009102.3 | |
XM_005272156.1 | 3 | 523 | XP_005272213.1 | |
XM_005272158.1 | 2 | 252 | XP_005272215.1 | |
XM_005272159.1 | XP_005272216.1 | |||
XM_005272162.2 | 3 | 371 | XP_005272219.1 | |
XM_006716932.1 | XP_006716995.1 | |||
XM_011518140.1 | 3 | 397 | XP_011516442.1 | |
XM_011518141.1 | 3 | 397 | XP_011516443.1 | |
XM_011518142.1 | 2 | 199 | XP_011516444.1 | |
XM_011518143.1 | XP_011516445.1 | |||
XM_011518145.1 | XP_011516447.1 | |||
XM_017014203.1 | 3 | 845 | XP_016869692.1 | |
XM_017014204.1 | 2 | 180 | XP_016869693.1 | |
XM_017014205.1 | 3 | 319 | XP_016869694.1 | |
AB209430.1 | 1 | 1189 | BAD92667.1 | |
AF095136.1 | 3 | 374 | AAD41245.1 | |
AK074874.1 | 3 | 355 | ||
AK074888.1 | 2 | 229 | BAC11269.1 | |
AK293529.1 | ||||
AK295458.1 | ||||
AK295561.1 | ||||
AK299646.1 | ||||
AK300393.1 | ||||
AK301486.1 | 3 | 379 | ||
AK303254.1 | ||||
AK307876.1 | 3 | 355 | ||
AK315218.1 | 3 | 332 | ||
BC022877.2 | 3 | 291 | ||
BC065268.1 | 3 | 582 | AAH65268.1 |
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 | UCK1 PRRC2B LOC642515 POMT1 RAPGEF1 |
esv2759718 | Chr.9:131395735 - 131603563 on Build GRCh38 | Gain | SNORD62B UCK1 PRRC2B SNORD62A LOC642515 POMT1 RAPGEF1 |
nsv818728 | Chr.9:131397036 - 131533047 on Build GRCh38 | Gain | SNORD62B UCK1 PRRC2B SNORD62A POMT1 |
nsv831740 | Chr.9:131317894 - 131517324 on Build GRCh38 | Loss | SNORD62B PRRC2B SNORD62A POMT1 |
nsv517936 | Chr.9:131467551 - 131533047 on Build GRCh38 | Loss | SNORD62B UCK1 PRRC2B SNORD62A POMT1 |
nsv615563 | Chr.9:131487491 - 131566642 on Build GRCh38 | Loss | SNORD62B UCK1 PRRC2B LOC642515 POMT1 |
dgv1512e214 | Chr.9:131418462 - 131577569 on Build GRCh38 | Gain | SNORD62B UCK1 PRRC2B SNORD62A LOC642515 POMT1 RAPGEF1 |
esv34928 | Chr.9:131414521 - 131565542 on Build GRCh38 | Gain | SNORD62B UCK1 PRRC2B SNORD62A LOC642515 POMT1 |
nsv831741 | Chr.9:131429364 - 131563388 on Build GRCh38 | Loss | SNORD62B UCK1 PRRC2B SNORD62A LOC642515 POMT1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |