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Gene Symbol
POMT1
Assay Reference Genome
Location

Chr.9:131507381 on build GRCh38
Cytoband
9q34.13
Assay ID Hs00028151_cn
Size
Availability Made To Order
Catalog # 4400291
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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 4 - Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
POMT1 NM_001077365.1 NP_001070833.1
NM_001077366.1 NP_001070834.1
NM_001136113.1 NP_001129585.1
NM_001136114.1 NP_001129586.1
NM_007171.3 NP_009102.3
XM_005272156.1 XP_005272213.1
XM_005272158.1 XP_005272215.1
XM_005272159.1 XP_005272216.1
XM_005272162.2 XP_005272219.1
XM_006716932.1 XP_006716995.1
XM_011518140.1 XP_011516442.1
XM_011518141.1 XP_011516443.1
XM_011518142.1 XP_011516444.1
XM_011518143.1 XP_011516445.1
XM_011518145.1 XP_011516447.1
XM_017014203.1 XP_016869692.1
XM_017014204.1 XP_016869693.1
XM_017014205.1 XP_016869694.1
AB209430.1 BAD92667.1
AF095136.1 AAD41245.1
AK074874.1
AK074888.1 BAC11269.1
AK293529.1
AK295458.1
AK295561.1
AK299646.1
AK300393.1
AK301486.1
AK303254.1
AK307876.1
AK315218.1
BC022877.2
BC065268.1 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 POMT1 PRRC2B LOC642515 RAPGEF1
esv2759718 Chr.9:131395735 - 131603563 on Build GRCh38 Gain UCK1 POMT1 SNORD62B PRRC2B LOC642515 SNORD62A RAPGEF1
nsv818728 Chr.9:131397036 - 131533047 on Build GRCh38 Gain UCK1 POMT1 SNORD62B PRRC2B SNORD62A
nsv831740 Chr.9:131317894 - 131517324 on Build GRCh38 Loss POMT1 SNORD62B PRRC2B SNORD62A
nsv517936 Chr.9:131467551 - 131533047 on Build GRCh38 Loss UCK1 POMT1 SNORD62B PRRC2B SNORD62A
nsv615563 Chr.9:131487491 - 131566642 on Build GRCh38 Loss UCK1 POMT1 SNORD62B PRRC2B LOC642515
dgv1512e214 Chr.9:131418462 - 131577569 on Build GRCh38 Gain UCK1 POMT1 SNORD62B PRRC2B LOC642515 SNORD62A RAPGEF1
esv34928 Chr.9:131414521 - 131565542 on Build GRCh38 Gain UCK1 POMT1 SNORD62B PRRC2B LOC642515 SNORD62A
nsv438114 Chr.9:131507286 - 131572909 on Build GRCh38 Loss UCK1 POMT1 LOC642515
nsv831741 Chr.9:131429364 - 131563388 on Build GRCh38 Loss UCK1 POMT1 SNORD62B PRRC2B LOC642515 SNORD62A

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