| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs1801019 |
G>A,C |
Benign, drug-response, not-provided |
Non coding transcript variant, coding sequence variant, missense variant |
| rs121917890 |
A>G |
Pathogenic, likely-benign |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
| rs121917891 |
G>C |
Pathogenic, likely-benign |
Non coding transcript variant, missense variant, coding sequence variant |
| rs121917892 |
T>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs200305064 |
T>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1344899647 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1559905153 |
G>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1579131415 |
->T |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
P11172 |
| Protein name |
Uridine 5'-monophosphate synthase (UMP synthase) [Includes: Orotate phosphoribosyltransferase (OPRT) (OPRTase) (EC 2.4.2.10); Orotidine 5'-phosphate decarboxylase (ODC) (OMPD) (EC 4.1.1.23) (OMPdecase)] |
| Protein function |
Bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT), which converts orotate to orotidine-5'-monophosphate (OMP), and orotidine-5'-monophosphate decarboxylase (ODC), the t |
| PDB |
2EAW
, 2JGY
, 2P1F
, 2QCC
, 2QCD
, 2QCE
, 2QCF
, 2QCG
, 2QCH
, 2QCL
, 2QCM
, 2QCN
, 2V30
, 2WNS
, 3BGG
, 3BGJ
, 3BK0
, 3BVJ
, 3DBP
, 3EWU
, 3EWW
, 3EWX
, 3EWY
, 3EWZ
, 3EX1
, 3EX2
, 3EX3
, 3EX4
, 3EX6
, 3G3D
, 3G3M
, 3L0K
, 3L0N
, 3MI2
, 3MO7
, 3MW7
, 4HIB
, 4HKP
, 6YVK
, 6YVL
, 6YVM
, 6YVN
, 6YVO
, 6YWT
, 6YWU
, 6ZWY
, 6ZWZ
, 6ZX0
, 6ZX1
, 6ZX2
, 6ZX3
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00156 |
Pribosyltran |
41 → 166 |
Phosphoribosyl transferase domain |
Domain |
| PF00215 |
OMPdecase |
252 → 466 |
|
Domain |
|
| Sequence |
|
| Sequence length |
480 |
| Interactions |
View interactions |
|
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs77082052 |
RCV005897585 |
| Hereditary orotic aciduria |
Uncertain significance; Conflicting classifications of pathogenicity |
rs1056229313, rs200305064, rs747405574, rs202135467 |
RCV005411714 RCV004786669 RCV004788187 RCV005630334 |
| Hereditary orotic aciduria, type 1 |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs1056229313, rs2063509434, rs992867962, rs2150894350, rs1204450021, rs1801019, rs2291078, rs1362850727, rs1030302556, rs757677801, rs2150896247, rs2063529521, rs2150889339, rs779723295, rs745697791, rs1353914568, rs1224759388, rs778459759, rs1175826147, rs375821728, rs766371401, rs769561118, rs2481577608, rs759317231, rs142349403, rs17843776, rs13146, rs199644027, rs772436591, rs202158549, rs200608473, rs3772810, rs17843775, rs3772809, rs138671830, rs112541424, rs141501397, rs200305064, rs140804035, rs17843835, rs374339942, rs902519177, rs201130807, rs143828400, rs1553748674, rs928740792, rs184856674, rs547350809, rs75971351, rs17843847, rs148036615, rs371015972, rs371813267, rs780788052, rs2063529251, rs2063577921, rs779077289, rs757137245, rs202135467, rs772815894 View all (45 more) |
RCV001322271 RCV001317886 RCV001326689 RCV001362195 RCV001361182 RCV001522005 RCV001511401 RCV001422313 RCV001436840 RCV001436410 RCV002036503 RCV001938594 RCV002045500 RCV001998920 RCV001886011 RCV002196743 RCV002205518 RCV002168645 RCV002193952 RCV002571560 RCV003111965 RCV002952351 RCV003007786 RCV003059273 RCV003594314 RCV000529613 RCV001522006 RCV003759813 RCV003594666 RCV001340094 RCV001518445 RCV002057829 RCV000887858 RCV001511402 RCV003595456 RCV003593439 RCV000892542 RCV000814195 RCV001861206 RCV000974686 RCV002057828 RCV003760413 RCV003760575 RCV001088895 RCV000634546 RCV000634547 RCV000794181 RCV000818701 RCV000966317 RCV000973819 RCV002539322 RCV002542066 RCV001493476 RCV002066181 RCV001047177 RCV001048493 RCV005093648 RCV001217980 RCV001213416 RCV001234258 |
| UMPS-related disorder |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs772436591, rs146176526, rs141640285, rs539724738, rs143828400, rs75971351 |
RCV003410767 RCV003927071 RCV003956984 RCV003961900 RCV003927939 RCV003970864 |
|
| Disease Name |
Relationship Type |
References |
| Aphasia Broca |
Associate |
36818472 |
| Asthma |
Associate |
39217320 |
| Carcinogenesis |
Associate |
17607371 |
| Carcinoma Hepatocellular |
Associate |
17607371 |
| Cholangiocarcinoma |
Associate |
22912546 |
| Colorectal Neoplasms |
Associate |
14562021, 17465211, 18360075, 18630501 |
| Colorectal Neoplasms |
Stimulate |
18652704 |
| COVID 19 |
Associate |
36818472 |
| Diarrhea |
Associate |
20647221, 28347333 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
34525956 |
| Gastrointestinal Neoplasms |
Associate |
18652704 |
| Glioblastoma |
Associate |
32611766 |
| Lymphatic Metastasis |
Inhibit |
18360075 |
| Marfan Syndrome |
Associate |
34434692 |
| Neoplasm Metastasis |
Associate |
18630501, 19052026 |
| Neoplasms |
Associate |
16880781, 18652704 |
| Neoplastic Syndromes Hereditary |
Associate |
28205048, 2837086, 4528586 |
| Oroticaciduria 1 |
Associate |
2475503, 28205048, 2829387, 2837086, 4528586 |
| Paget Disease Extramammary |
Associate |
28603180 |
| Pancreatic Neoplasms |
Associate |
17607371 |
| Pancreatitis |
Associate |
17607371 |
| Stomach Neoplasms |
Stimulate |
18652704 |
| Stomach Neoplasms |
Associate |
20857529 |
| Uterine Cervical Dysplasia |
Associate |
17607371 |
| Uveal melanoma |
Associate |
34434692 |
|