Assay Details
Target Gene Details
Entrez Gene ID: | 7372 |
Gene Name: | uridine monophosphate synthetase |
Gene Aliases: |
OPRT |
Location: |
Chr.3:124730366-124749273 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UMPS | NM_000373.3 | NP_000364.1 | ||
NR_033434.1 | ||||
NR_033437.1 | ||||
AB062285.1 | BAB93468.1 | |||
AK291306.1 | ||||
AL080099.2 | CAB45710.3 | |||
BC000364.2 | AAH00364.1 | |||
BC007511.2 | AAH07511.1 | |||
CR456787.1 | CAG33068.1 | |||
D86227.1 | BAA19920.1 | |||
D86228.1 | BAA19921.1 | |||
D86230.1 | BAA19923.1 | |||
EU921886.1 | ||||
EU921887.1 | ||||
EU921888.1 | ||||
EU921889.1 | ||||
EU921890.1 | ||||
EU921891.1 | ||||
EU921892.1 | ||||
EU921893.1 | ||||
EU921894.1 | ||||
EU921895.1 | ||||
J03626.1 | AAA61255.1 | |||
KU178375.1 | ||||
KU178376.1 | ||||
M36661.1 | AAA61256.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1012242 | Chr.3:124722848 - 124797029 on Build GRCh38 | Gain | MIR544B KALRN UMPS ITGB5 |
nsv1160974 | Chr.3:124577493 - 125300995 on Build GRCh38 | Duplication | ZNF148 MIR544B MIR5092 MUC13 HEG1 KALRN SLC12A8 UMPS ITGB5 |
nsv1001677 | Chr.3:124015843 - 125108694 on Build GRCh38 | Loss | MIR6083 MIR544B MUC13 MIR5002 HEG1 KALRN SLC12A8 UMPS ITGB5 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |