ZMP
si:ch211-198n5.8
Ensembl ID:
ZFIN ID:
Description:
torsin-3A [Source:RefSeq peptide;Acc:NP_001121738]
Human Orthologue:
TOR3A
Human Description:
torsin family 3, member A [Source:HGNC Symbol;Acc:11997]
Mouse Orthologue:
Tor3a
Mouse Description:
torsin family 3, member A Gene [Source:MGI Symbol;Acc:MGI:1353652]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21235 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21235
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102556 | Nonsense | 54 | 367 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 8 (position 17128138)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 16573026 |
| GRCz11 | 8 | 16608738 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGCAATATTTGGGAAGGAGACTGTCAACCACATCAGGATGACGCGACT[C/T]AACAAGGTAAATATAAGTAAGATGGATACTGACAGATGGTGATTTCATAA
Long Flanking Sequence:
GAAGAGTAACAATTACCCCGTGGCGTTCACGTTCTAAAAAAACGTATTTTAATATACGTTTTACCGCTATTATTGAAGAATGGCTTGCTATCCGTTAAAAATCAAGGAGAACTTGTTTTTAAAAAAAAATAAAATAAAATCCATTTTACTGACCCAATGCCCGCCCATTTAACCCTTTACAATAACCACTCAGGTTCTACTATTACAATGAAGACTGTGACGTCGCGTTTCAGTTGCGGCCTGTCATCGGTGAGACTCGGATGTGTCTGAATGGACGCTGCAGTTAAATCCTATAGCTCAATGTTACATTTTTTACTAGCTATATATTTCTGTCGGCACCGATGTTTTCCTTGGTAATCGTGTCATCACTCCTGGCTGTTTCGGCTAATGCGGATTTTTTCCAATTCGAAAGCATCTCCAATGTTTCTACCTATTATTTCAATTACCTCTATTGCAATATTTGGGAAGGAGACTGTCAACCACATCAGGATGACGCGACT[C/T]AACAAGGTAAATATAAGTAAGATGGATACTGACAGATGGTGATTTCATAAAGATAAAAGGTAATTTTTAATGATATAAACCAATATTGTGTAGAAAACCAGACTCTTGTGTTCATTTTGTTGTAAATTTCAGCCAACGATTAGCATAAAACTGTATTATGATTCTGTGTATGATCATAGCAATACATTAATTATAAATGGATGGTCTTTGTTGTAATATTTTTCAATTGGCTTCAAGTTCAATTGGCTTCACTTATGTTTATTATCCTCATTTGAAATGTTTTCTGTATTTGTAATCGTAATGTAATTTAATGCCGAGTTATGTAACACACATTCTGCTCTCAGTGCCTACTGGGGACATTTGGTCAGGGTTTCCCCAGTACTATACTGGCATACTGACAGCCTGGTACTGCAGCGTGGGTCAGTGCTGCGATTCAGGAGACTGCAGGATCACAAATAACATCACAGGTAAAGCCATCAACATTTATGCATGCTTGCTTT
Associated Phenotype:
Not determined