ZMP
synj2bp
Ensembl ID:
ZFIN ID:
Description:
synaptojanin-2-binding protein [Source:RefSeq peptide;Acc:NP_956211]
Human Orthologue:
SYNJ2BP
Human Description:
synaptojanin 2 binding protein [Source:HGNC Symbol;Acc:18955]
Mouse Orthologues:
AC154908.2, Cox16
Mouse Descriptions:
COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1913522]
Synaptojanin-2-binding protein [Source:UniProtKB/Swiss-Prot;Acc:Q9D6K5]
Synaptojanin-2-binding protein [Source:UniProtKB/Swiss-Prot;Acc:Q9D6K5]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24940 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa24940
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000030133 | Nonsense | 103 | 152 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 13 (position 36959920)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 36432222 |
| GRCz11 | 13 | 36558054 |
KASP Assay ID:
554-7802.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAACTGCCAATAAATGATGCACATCTGCTTCTGTCCACAGCCTGTCCTG[C/T]AGAACGGCCCCACCAGCTCTCGTGCCGATGGAGAGTCTTCCTCTGCTTTG
Long Flanking Sequence:
CTCTGTGGTGACCCCTGATAAATCAGAGACTAAGCCAAAGAAAAATTAATGAATGAATTTTACCCCAACATATTAATTTGGGCTATAAATATTTGGATTGTCATCATAAATAATTTTCATAGTTTATCTCTAGTTTTGGCTTCAGTAAAGACTAATCTTTCTTTTCTTTAATCAAAATGATGTGGTCAAGTAAAATAAGTATTCAACAAACCAAACATCAATTTATTTTGTGCTCTAGTTTCAAAATCACATTTCTTTAAATGACTACTGATATGAAGGTGAATGAAGTGTACATTCTGCCTTTGTGTAGATAAACGGCAGAAAGCTGGACAATCTGTCTCACGGTGCAGCAGTGGAGCTGTTTCGCTCTGCAGGAGAGGACGTGCATCTCTGCATTCAGCAGCGAGTAAGTAAAGCCAGCTGAAGACCCTGCTGTACATCACATCACTGAGAACTGCCAATAAATGATGCACATCTGCTTCTGTCCACAGCCTGTCCTG[C/T]AGAACGGCCCCACCAGCTCTCGTGCCGATGGAGAGTCTTCCTCTGCTTTGGGCACATGGACACTGTTTGCTGTAGTCACTCTGGCCGTTATGACAGCCAGCTTCATCGCTTACAAGCGCTTTCATCCCCGAGGGCCCCGGGGCCCATTTTAACTCATCACATTTTACAGACTAAAGCTTCTCTTTATTTTTTTTCGTAGTTTTTTCCCGAACTGTTCTGCTGAGGGCCCAAAAACATTAACATGGAAGGGGAAAAAATGGAAAGCCAGTTAATGGAGGGAGAGTTTTTGTTAATTGATTTTTCCATGAAATGACGACACACACATGTAGCTGTAACATGTTTTCACAATTCATTCGGGGATGATCATTGGCGTTTACCCAGAATCCCCAGCATGCCTGATGATGACATTGCACGGTTAAACGAGGGATCTGGACGGATGAGCACTGTGTTGGAATAGGAAGTCTCCGTAAAGTGAACCAGACAGAAGGACTGCAGGCGGG
Associated Phenotype:
Not determined