LOC100001302

Ensembl ID:
ENSDARG00000061222
Human Orthologue:
UBA7
Human Description:
ubiquitin-like modifier activating enzyme 7 [Source:HGNC Symbol;Acc:12471]
Mouse Orthologue:
Uba7
Mouse Description:
ubiquitin-like modifier activating enzyme 7 Gene [Source:MGI Symbol;Acc:MGI:1349462]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa16823 Essential Splice Site Available for shipment Available now
sa16325 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16823
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087080 Essential Splice Site 152 1016 4 24
Genomic Location:
Chromosome 6 (position 52905718)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACTCAAACAATATAAAGTTTATTGTGGCTGACACCAGAGGACTYTGTGG[G/A]TAAGAAGCATCWCATGAATCAATACAMCACATCAATATTTATAGCGGTRC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16325
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
ENSDART00000087080 Nonsense 541 1016 14 24
Genomic Location:
Chromosome 6 (position 52918003)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AACTTAACTAGCTGTCTTAACTTTTATTTTCCTTGTCCATTAGGGGTTTA[T/A]CTTGACCAATGTTGTGTGCGAAASAAAAAGCCCATGCTGGAGGGAGGAAC
Associated Phenotype:
Not determined

GWAS

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

  • Ulcerative colitis: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (View Study)

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/bs3llxfb