UMPS G213A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(UMPS Gly213Ala)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.013217; protein features (might be) affected (Detail: aa 2-214 REGION OPRTase gets lost)
SIFT: Affect protein function 0.03
GVGD: GV 93.77; GD 52.86; Class C0 Multi-alignment of P11172.1 uridine 5’-monophosphate synthase [Homo sapiens] with: XP_001169083.1 [Pan troglodytes] XP_001113783.1 [Macaca mulatta] NP_001126858.1 [Pongo abelii] XP_003275596.1 [Nomascus leucogenys] XP_002758771.1 [Callithrix jacchus] XP_002716466.1 [Oryctolagus cuniculus] XP_535769.2 [Canis familiaris] NP_001020573.1 [Rattus norvegicus] NP_033497.1 [Mus musculus] BAE35388.1 [Mus musculus]

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr3:124456742: 16.5% (1779/10758) in EVS
  • C @ chr3:125939431: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 16.5% (1779/10758)


Ichikawa W, Takahashi T, Suto K, Sasaki Y, Hirayama R. Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen. Clin Cancer Res. 2006 Jul 1;12(13):3928-34. PubMed PMID: 16818689.



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr3:124456742


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr3:124456742



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr3:124456742



hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr3:124456742


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr3:124456742


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr3:124456742



hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr3:124456742


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr3:124456742


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr3:124456742


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr3:124456742


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr3:124456742


huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr3:124456742


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr3:124456742


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr3:124456742


GS06985 - var-GS06985-1100-36-ASM
het C @ chr3:125939432


GS07357 - var-GS07357-1100-36-ASM
het C @ chr3:125939432


GS10851 - var-GS10851-1100-36-ASM
het C @ chr3:125939432


GS18555 - var-GS18555-1100-36-ASM
het C @ chr3:125939432


GS18558 - var-GS18558-1100-36-ASM
het C @ chr3:125939432


GS18942 - var-GS18942-1100-36-ASM
het C @ chr3:125939432


GS18956 - var-GS18956-1100-36-ASM
hom C @ chr3:125939432


GS19017 - var-GS19017-1100-36-ASM
het C @ chr3:125939432


GS19020 - var-GS19020-1100-36-ASM
het C @ chr3:125939432


GS19238 - var-GS19238-1100-36-ASM
het C @ chr3:125939432


GS19649 - var-GS19649-1100-36-ASM
het C @ chr3:125939432


GS19670 - var-GS19670-1100-36-ASM
het C @ chr3:125939432


GS19701 - var-GS19701-1100-36-ASM
het C @ chr3:125939432


GS19703 - var-GS19703-1100-36-ASM
hom C @ chr3:125939432


GS19704 - var-GS19704-1100-36-ASM
het C @ chr3:125939432


GS19735 - var-GS19735-1100-36-ASM
het C @ chr3:125939432


GS21767 - var-GS21767-1100-36-ASM
het C @ chr3:125939432


Other external references

  • rs1801019
  • [Diarrhea; Neutropenia]
    The Ala (C) allele of this SNP is associated with grade 3 to 4 neutropenia and diarrhea and is an independent predictor of diarrhea in patients with colorectal neoplasms.
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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