ENSDARG00000089112

Ensembl ID:
ENSDARG00000089112
Human Orthologues:
IRGC, IRGM
Human Descriptions:
immunity-related GTPase family, cinema [Source:HGNC Symbol;Acc:28835]
immunity-related GTPase family, M [Source:HGNC Symbol;Acc:29597]
Mouse Orthologues:
Ifi47, Irgc1
Mouse Descriptions:
immunity-related GTPase family, cinema 1 Gene [Source:MGI Symbol;Acc:MGI:2685948]
interferon gamma inducible protein 47 Gene [Source:MGI Symbol;Acc:MGI:99448]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa14808 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14808
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000123227 Nonsense 513 561 2 2
Genomic Location:
Chromosome 16 (position 47593846)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGAGYAAATTGGRTATTCAGCAGASCTTGTTTCTGGTATCTGCGAACTA[T/A]CCAGAAACCCTAGAYTTAGCCMAGCTAAAGGGGATGTTAAAAGCAGCCAT
Associated Phenotype:
Not determined

GWAS

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

  • Crohn's disease: Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. (View Study)
  • Crohn's disease: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (View Study)
  • Crohn's disease: Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. (View Study)
  • Type 2 diabetes: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (View Study)
  • Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (View Study)

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

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* quick link - http://q.sanger.ac.uk/j5tuqptr