ube2r2

Ensembl ID:
ENSDARG00000058740
ZFIN ID:
ZDB-GENE-040718-344
Description:
ubiquitin-conjugating enzyme E2 R2 [Source:RefSeq peptide;Acc:NP_001002600]
Human Orthologue:
UBE2R2
Human Description:
ubiquitin-conjugating enzyme E2R 2 [Source:HGNC Symbol;Acc:19907]
Mouse Orthologue:
Ube2r2
Mouse Description:
ubiquitin-conjugating enzyme E2R 2 Gene [Source:MGI Symbol;Acc:MGI:1914865]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa37250 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa37250
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 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081666 Essential Splice Site 121 250 4 6
Genomic Location (Zv9):
Chromosome 21 (position 10273357)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 11756720
GRCz11 21 11849348
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGAGCGGAGAACTGCCCTCAGAGAGATGGAACCCCACACAGAATGTCAG[G/A]TAACAGGGTCAAAATACACATAATAACACTCAGTATGGAGCCAGATACAT
Associated Phenotype:
Not determined

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