ZMP
si:ch211-194d6.5
Ensembl ID:
ZFIN ID:
Description:
TBCC domain-containing protein 1 [Source:UniProtKB/Swiss-Prot;Acc:A4QP31]
Human Orthologue:
TBCCD1
Human Description:
TBCC domain containing 1 [Source:HGNC Symbol;Acc:25546]
Mouse Orthologue:
Tbccd1
Mouse Description:
TBCC domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1917823]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21496 | Essential Splice Site | Available for shipment | Available now |
| sa34661 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21496
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064156 | Essential Splice Site | 350 | 582 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 28778597)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 27934293 |
| GRCz11 | 9 | 27745039 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAAAGTGCTGTGTCAACGTCCATTTTAACCAAGTCTTTGTGTCCTGCA[G/T]GTCTGTGACCCTGGACAAGTGCAGAAACAGTACACTAGTTCTGGGGCCGG
Long Flanking Sequence:
TCTTTGCTTGATGTTCATTGCATTTATTCAAAGCTAATTAAAGGTAGGCATTTTTATCAGTACTTGCTTTACCTGAGAATTAAACCTACAATCCTGGCAATGTCCATGCCATACTTAACTATTTGAGTTTTAATGTGGAGCACATTACAAATGGAAAATTAATGCAATTGTTGCTATACAACTAGGCAACAATACTGTCCCATTCCTAATTATAACAGCATTGGATGAATCACAACTTGCATAACTAGAGCTTAACTAACTTACCAAAAAAGCGGGCATAGTCTCCTGTCAATAAATATTTTTATCAAGTTGAAGTGTAATACAGAACGAAATTATAAAGAAAATATAATATAATAATACAAGAAATGTAACATGTTATATATTTTAAAATGTATATATGAAAAACTCCCTAGCAGAAGAAACGCACAATTATATATATAAATAAATAGAAAAAAAGTGCTGTGTCAACGTCCATTTTAACCAAGTCTTTGTGTCCTGCA[G/T]GTCTGTGACCCTGGACAAGTGCAGAAACAGTACACTAGTTCTGGGGCCGGTAAGGACCAGCGTCCACATTCAGAGCTGTGAGAATGTCCGTGTTGTTTGTGTGGCCGGTCGTCTGACCATAGGAGGCTCCTTCAACTGCACAATTCACTCCCTCACTCCAACTCGACCCCTTCTCCTTCCTGGAAATGCGTCTCTCACTTTGGGCCCCTTTCACACACAGTACCCCACCCTAGAAGACCACATGGCGAGTGCAGGTTTAGCAGTGGTTCCCAATTTATGGAACCAGCCTCTGCTGTTTGGAGTCGAGGGTTCAGCTCCAGATACAGGCTGCTACCGAATCCAGCCCCCTTCTGAGTTTTATCCACTAGTGATTCCCTTCCAAATGGATGGAGATAACTGCGAGATCCCTTGCAGCCTGCCGGAAGATTTCCAGAAGGCCTTGGAGAGCCGAGAAAAGACCATAGAGGAGTGGCAGAAGACTGTCAAGGATGCACACTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34661
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064156 | Nonsense | 460 | 582 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 28778266)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 27933962 |
| GRCz11 | 9 | 27744708 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCAGCCTCTGCTGTTTGGAGTCGAGGGTTCAGCTCCAGATACAGGCTG[C/A]TACCGAATCCAGCCCCCTTCTGAGTTTTATCCACTAGTGATTCCCTTCCA
Long Flanking Sequence:
ATTATAAAGAAAATATAATATAATAATACAAGAAATGTAACATGTTATATATTTTAAAATGTATATATGAAAAACTCCCTAGCAGAAGAAACGCACAATTATATATATAAATAAATAGAAAAAAAGTGCTGTGTCAACGTCCATTTTAACCAAGTCTTTGTGTCCTGCAGGTCTGTGACCCTGGACAAGTGCAGAAACAGTACACTAGTTCTGGGGCCGGTAAGGACCAGCGTCCACATTCAGAGCTGTGAGAATGTCCGTGTTGTTTGTGTGGCCGGTCGTCTGACCATAGGAGGCTCCTTCAACTGCACAATTCACTCCCTCACTCCAACTCGACCCCTTCTCCTTCCTGGAAATGCGTCTCTCACTTTGGGCCCCTTTCACACACAGTACCCCACCCTAGAAGACCACATGGCGAGTGCAGGTTTAGCAGTGGTTCCCAATTTATGGAACCAGCCTCTGCTGTTTGGAGTCGAGGGTTCAGCTCCAGATACAGGCTG[C/A]TACCGAATCCAGCCCCCTTCTGAGTTTTATCCACTAGTGATTCCCTTCCAAATGGATGGAGATAACTGCGAGATCCCTTGCAGCCTGCCGGAAGATTTCCAGAAGGCCTTGGAGAGCCGAGAAAAGACCATAGAGGAGTGGCAGAAGACTGTCAAGGATGCACACTTGAACAAGTAAACCTACTTTTTGGTTCCTGTCCAAGCTGTAGATAAACGTAGATGCAAATTTTGAGCCAAATCAGACATAGCTGTATGTGGAGTGTAATGTAAACAGTTTTGTTCAAGATGTTGTATTGCACTTGTTGCTTTTCTTATCAAAAGTGTTGTGTGTGTGCTTGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACATAAAAATGATTTGAATATTAATATTACAATAATTATCTATAAATGCATAAAAAATACTTTCATTATAAAGCATTTCTCAAACATAATATTCTACAATAGAAACACTGAATCTTTTAAAATTAAAA
Associated Phenotype:
Not determined