ube2q2

Ensembl ID:
ENSDARG00000013990
ZFIN ID:
ZDB-GENE-040426-1919
Description:
ubiquitin-conjugating enzyme E2Q 2 [Source:RefSeq peptide;Acc:NP_998152]
Human Orthologues:
AC011295.5, UBE2Q2, UBE2Q2P2
Human Descriptions:
ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2 [Source:HGNC Symbol;Acc:37440]
ubiquitin-conjugating enzyme E2Q family member 2 [Source:HGNC Symbol;Acc:19248]
Mouse Orthologues:
E330021D16Rik, Ube2q2
Mouse Descriptions:
RIKEN cDNA E330021D16 gene Gene [Source:MGI Symbol;Acc:MGI:2141773]
ubiquitin-conjugating enzyme E2Q (putative) 2 Gene [Source:MGI Symbol;Acc:MGI:2388672]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15381 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15381
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016117 Nonsense 23 182 1 6
ENSDART00000124645 Nonsense 23 373 1 13
Genomic Location:
Chromosome 25 (position 30453272)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAAGGCCGAAKTAAAGTTCCTGGAGTCAATCTTTGACCCAAACCATGAG[C/T]GATTTCGAATAATCGACTGGAAGCMAGACGAACTGAGYTGCCAGTTTAAT
Associated Phenotype:
Not determined

GWAS

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

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

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* quick link - http://q.sanger.ac.uk/1w9vxkjp