ZMP
park2
Ensembl ID:
ZFIN ID:
Description:
E3 ubiquitin-protein ligase parkin [Source:RefSeq peptide;Acc:NP_001017635]
Human Orthologue:
PARK2
Human Description:
parkinson protein 2, E3 ubiquitin protein ligase (parkin) [Source:HGNC Symbol;Acc:8607]
Mouse Orthologue:
Park2
Mouse Description:
Parkinson disease (autosomal recessive, juvenile) 2, parkin Gene [Source:MGI Symbol;Acc:MGI:1355296]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45478 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45478
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000029649 | Essential Splice Site | 21 | 176 | 1 | 5 |
Genomic Location (Zv9):
Chromosome 13 (position 3059807)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 3237226 |
| GRCz11 | 13 | 3370576 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTCGCTCATTAAAGAGGTTCATCATTTCCATGTCCTGGGAGAAGAGCAG[G/A]TATGTTTGGACTAATGCAAACACACACATTTCAGCAAATCTCCCTTTGAA
Long Flanking Sequence:
TTAGTGTTTGTGGATTGCTGAGATATAGAGTTTAATGCATGTTAATATATGCACGTGTTATTTCCCATTGCATTCTGATGAGGAACACCCAGGTGAATTCAACAGCATATGGTGCGTTTGGTTATTGCCATGCTAACCAAGAGTTGTTTTTGTCAAGATGGTCAACAGTACGTCTTCTGTATTTCACACCCAAACTCCCATAATTTGTATGGACCAATCTAGTAACGAAAAATCCCTTTCTGTCGATGTTTGTCAAGTTGCCATATCTTGTATGACCCTCATCACCTCACACAATTGACAAACTATTCAAATCTCAAAGCATTTTTTTACCTTAATCTGGCAACCAATGTTACAACCCAGTTGTGCTGATGATTTCTTCACAGGTAGATGCTCAGCTCTTGTGTCCCTGACTCTATTATGCTTATTTTCTGTCTCTAGCTGGCTGTCCTGATTCGCTCATTAAAGAGGTTCATCATTTCCATGTCCTGGGAGAAGAGCAG[G/A]TATGTTTGGACTAATGCAAACACACACATTTCAGCAAATCTCCCTTTGAATGAGATAATAACACAAAAACCCAGCTTCGTCCAGATCAATAGGCCCGCTGTTTCCCTACATCACTCACTACAAACTAATCTCCATACCAACACGTTTACATGTATTTATTTAGCCGTCTTTTCACCGTCTGTACATATGGTGAGGAGAAAGCTTGTGCCTACAGGTGGTTTGTCAAGCCCACTCACCTGTGTGAAGCATACTCGGAATTGGACAGTGTTTCTAAGAAGCATGGGTGTTTTATAGTGTCTGGTGCATATGGAGAGGAAAGAGTGTGTCCTACAGGTGGCTTGTCAAGCCCACTCACCTGTGTGAAGCATACTTGGAATTGGACAGTGTTTCTAAGAAGCATGGGTGTCTTATAGTGTCTGGTGCATATGGAGAGGAAAGAGTGTGTCCTACAGGTGGTTTGTCATGTCCACTCGCCTATGTGGTGCACACTCAGAATTACA
Associated Phenotype:
Not determined