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 Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UMPS | NM_000373.3 | 6 | 1487 | NP_000364.1 |
NR_033434.1 | 5 | 1333 | ||
NR_033437.1 | 7 | 1586 | ||
AB062285.1 | 6 | 1409 | BAB93468.1 | |
AK291306.1 | 6 | 1403 | ||
AL080099.2 | 5 | 1266 | CAB45710.3 | |
BC000364.2 | 6 | 1404 | AAH00364.1 | |
BC007511.2 | 6 | 1404 | AAH07511.1 | |
CR456787.1 | 6 | 1381 | CAG33068.1 | |
D86227.1 | 6 | 1400 | BAA19920.1 | |
D86228.1 | 6 | 1400 | BAA19921.1 | |
D86230.1 | 6 | 1400 | BAA19923.1 | |
EU921886.1 | 6 | 1401 | ||
EU921887.1 | 5 | 1247 | ||
EU921888.1 | 5 | 1247 | ||
EU921889.1 | 6 | 1346 | ||
EU921890.1 | 6 | 1605 | ||
EU921891.1 | 7 | 1500 | ||
EU921892.1 | 6 | 1083 | ||
EU921893.1 | 6 | 1054 | ||
EU921894.1 | 6 | 1401 | ||
EU921895.1 | 3 | 956 | ||
J03626.1 | 6 | 1485 | AAA61255.1 | |
KU178375.1 | 6 | 1381 | ||
KU178376.1 | 7 | 1480 | ||
M36661.1 | 6 | 1347 | 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 | KALRN MIR544B UMPS ITGB5 |
nsv1160974 | Chr.3:124577493 - 125300995 on Build GRCh38 | Duplication | KALRN HEG1 MIR5092 MIR544B MUC13 SLC12A8 ZNF148 UMPS ITGB5 |
nsv1001677 | Chr.3:124015843 - 125108694 on Build GRCh38 | Loss | KALRN HEG1 MIR6083 MIR544B MUC13 MIR5002 SLC12A8 UMPS ITGB5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |