ZMP
ube3a
Ensembl ID:
ZFIN ID:
Description:
ubiquitin-protein ligase E3A [Source:RefSeq peptide;Acc:NP_001007319]
Human Orthologue:
UBE3A
Human Description:
ubiquitin protein ligase E3A [Source:HGNC Symbol;Acc:12496]
Mouse Orthologue:
Ube3a
Mouse Description:
ubiquitin protein ligase E3A Gene [Source:MGI Symbol;Acc:MGI:105098]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9479 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9479
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000078128 | Nonsense | 53 | 857 | 3 | 11 |
| ENSDART00000078128 | Nonsense | 53 | 857 | 3 | 11 |
The following transcripts of ENSDARG00000055737 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 6 (position 38709095)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 38780695 |
| GRCz11 | 6 | 38778231 |
KASP Assay ID:
2259-7821.1 (used for ordering genotyping assays)
KASP Sequence:
TTCCAGCGCATGGATAACAATGCAGCAGCCATCAAGGCCCTGGAGTTATA[T/A]AAGAATAATGCCAAACTGTGTGATCCTCATCCCTCTAAGAAAGGAGCCAG
Long Flanking Sequence:
TGCTTTGAATGTTTTCTTTTATGGCACATTATGACAGATCAGTGCATGTTATGTTTTTGTCCATGCATAAAGCATTTTGCATGAGCAGCTGCATTATAGATGTTTCTTGATCTCTTTCTTTCAAATGAATAATTCTTTTGAAGAATGGAAGACATACTGCTCGCTTTCTTTGTCATCTTAACAGCAGCCGATTTTTCATATGCACATGCAACAGTCACATTTTGACGGTTGTTGGAAATGAAAATGGTTGATTAGTAGACATGTATATCTGCACTGGTGTGAACTTATTTTGGGATTAAACCATACTAATCCCCACTGCTGTCCTGTTTGAATGTCTGATACAGGAAGCGAGCGGCTGCAAAGCATTTAATTGAGCGCTACTACCACCAGTTAACAGAGGGCTGTGGAAATGAGGCCTGCACGAATGAGGCTTGTGGCTCTTCTCCGGGTTTCCAGCGCATGGATAACAATGCAGCAGCCATCAAGGCCCTGGAGTTATA[T/A]AAGAATAATGCCAAACTGTGTGATCCTCATCCCTCTAAGAAAGGAGCCAGTTCAGCCTTCCCGGAGAACAGTGCCAAAGGAGCTCACAACTTCTCTGCTTGCAGCAACGGAAAGATGAACCATAAGGACCTGCCACCCACAAGGGAGGACTTTAGAGGTGAGTAACGGTGTTATGTTTGTAGACATTTTATCAGAACTAGTTTGATTAAAATTCCTTAAAGTTTTTTACTGGAAATCCTCACGTATTAATAAACACGCATTTAAAACATATACCTTTCTAAATATAATTTGCCACAGCCATATCACCCTGCAGCCCAAGACCGGTTACTCACTGAAGCTAAGCAGGGCTGAGCCTGGTCAGTACCTGGATGGGAGACCAATAGGGAACACTAGGTTGCTGTTGGAAGTGGTGTTAGTGAGGCCAGCAGGGGGCGCTCAACCTGTGGTCTGCGTGAGTCCTAATGCCCCAGTAAAAGTGAAGGGGACACTATACTGTCAGT
Associated Phenotype:
Not determined