gmpr

Ensembl ID:
ENSDARG00000016160
ZFIN ID:
ZDB-GENE-050522-48
Description:
GMP reductase 1 [Source:RefSeq peptide;Acc:NP_001018448]
Human Orthologue:
GMPR
Human Description:
guanosine monophosphate reductase [Source:HGNC Symbol;Acc:4376]
Mouse Orthologue:
Gmpr
Mouse Description:
guanosine monophosphate reductase Gene [Source:MGI Symbol;Acc:MGI:1913605]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa43308 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa43308
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000050130 Nonsense 45 345 2 9
Genomic Location (Zv9):
Chromosome 19 (position 33857791)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 32895207
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGGTTGACCTGCAGAGGACCTTCACATTCCGGAACTCAAAGCAGACGTA[C/A]AATGGCATCCCGATCATCGCTGCTAACATGGACACCACCGGCACTTTTGA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Gambling: Genome-wide association study of a quantitative disordered gambling trait. (View Study)
  • Major depressive disorder: Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (View Study)
  • Response to statin therapy (LDL-C): Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (View Study)
  • Triglycerides: Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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