ube2b

Ensembl ID:
ENSDARG00000026035
ZFIN ID:
ZDB-GENE-040718-247
Description:
ubiquitin-conjugating enzyme E2 B [Source:RefSeq peptide;Acc:NP_001002747]
Human Orthologue:
UBE2A
Human Description:
ubiquitin-conjugating enzyme E2A (RAD6 homolog) [Source:HGNC Symbol;Acc:12472]
Mouse Orthologue:
Ube2a
Mouse Description:
ubiquitin-conjugating enzyme E2A, RAD6 homolog (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:10295

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa37385 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa37385
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:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029946 Essential Splice Site 81 152 4 6
Genomic Location (Zv9):
Chromosome 21 (position 44056764)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 45330876
GRCz11 21 45371687
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACAAGCCGCCGACGGTTCGCTTCGTCTCCAAAATGTTTCACCCCAACGG[T/G]GAGCTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAATGAGGATCT
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/.)

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:

Short-link