ZMP
wu:fc59a02
Ensembl ID:
ZFIN ID:
Human Orthologue:
TBC1D12
Human Description:
TBC1 domain family, member 12 [Source:HGNC Symbol;Acc:29082]
Mouse Orthologue:
Tbc1d12
Mouse Description:
TBC1D12: TBC1 domain family, member 12 Gene [Source:MGI Symbol;Acc:MGI:2384803]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa15150 | Nonsense | Available for shipment | Available now |
| sa36401 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15150
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 |
|---|---|---|---|---|---|
| ENSDART00000055756 | Nonsense | 206 | 823 | 1 | 13 |
Genomic Location (Zv9):
Chromosome 17 (position 23084056)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 23234205 |
| GRCz11 | 17 | 23254229 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGGAGCCTTGGGTGGCCTTCCTGCTCCAGAACGCCCTGTCTTTGTTCAT[C/T]AGAGCGATGGTGTCCTCTCSTCTGGGAGGTCATGTGAAAGGGTCAGTCAT
Long Flanking Sequence:
AGGGCTCTGTTTACATTTCGCCATACGCGGATCCGGGCGGTGCTGGACAGCAGACTCTCTCCTCGGTGCTGACGGGGTGCAAGGCCGGGGTATTAAACGGGTTTCTCGAACAGCTGGATATGGTGTGTCCGGATGGAGAGGAGGAGACGCAGTCAGACACGGGTCGGGTTTCAGGGACTTTCGAGACCGAGGATAAACCCGACAAGGCGTATTTAAATTCCCAAATGAGGTCTGCAGTGTCATTCATGGGTAAAACCTCGCCCGATATGAAGATACCTAATGGAGATGTTACCCATGAACACATGGATCATGATCAAACTCAATTAAGATGTTTAAATTACACAGAAGGATTCAACAGGAAGGCGTCTGCTGCTTTAGACAGGGGAGTGAAAGTGGGCAATGGAGGGCTGTTGATTGTGAACAGCTATGACACCCTCTCTCAAGTCCCTTTTGGAGCCTTGGGTGGCCTTCCTGCTCCAGAACGCCCTGTCTTTGTTCAT[C/T]AGAGCGATGGTGTCCTCTCCTCTGGGAGGTCATGTGAAAGGGTCAGTCATCCCAGCGCAGATGAGGCCCATCTCTGTGACCCGGATCCAGTATACACACTGACAGATCTCAGCACCAAGCTATCCTTGTCACCCCTGGCAGAAAACACCAGCGATTACACTGAGACAGACCCTAGTCCGGAGGAGGATTTCAGTGACACAGGGCCCCCAGTCAGGCCCCAGAACCTCCGGACAAACCCCGGGCACCCAATCTCCCTCAGCTGTGATGCCACTCCTTTGAGTCCTGAGGACGATGGGTATTTTGGGGCAGAGGGTTGTGTGGATGAATGTCTCAGCTCTGGGAATACATTTGAGGGCGTTCGGCGGCAGAGTGCTCCAGACAGAGTGGATGTTGACCCCAATGCCTCATCTGACCAGACACTTGGCACCAAGAGACATGGCATTGCTGATTTTCTTACCAGGTAGATGGCAGTTGAGCAGATTGATTTAATTTTATTTTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36401
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000055756 | Essential Splice Site | 442 | 823 | 3 | 13 |
Genomic Location (Zv9):
Chromosome 17 (position 23075809)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 23225958 |
| GRCz11 | 17 | 23245982 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGTTTGAGCCTTTGTCCACCACCGCTCTTATTCTGGAAGACAGACCTGC[G/A]TAAGTGTGAAACGTGAAGTTCAGCTCCCATAATGCATTGCTTAAACTACT
Long Flanking Sequence:
AGTGTATTTAACACATTTTTTATTTGATTGTCAATCAAATCAATTTTGATTAGTTTGAAATCTAAATTTTGATAGCGTGTGAAAATGTTTTGTCTCTTGTTGACCTTGTAATGGAGTCAGGCTGGTCAGCTGTTGTCTATTTGTATTTGAAACAGAAAGCTGTGTCAGACACTGTCTCACGAATGCACATTCTTCAGTTGTAATATGGGTTTAACATTAGGGCCCTGGCCTTGGGGCCTTTTTCTTGTAGCATGTGGGAATCCCATGATGGAATTTTTTCCTCCCTTCACTTCTCCTCCAGATACAGCTGAGGAATTGTAGACACGGACCTGCTGTAAACTCATAATGACTGCTCTTCTTTCCTTTTTTTCCCTAAAGGAGTATGAGTCCAGGGCGGGGCCTGCTACAGGACCACCCCTTCACCCTCCACCAACAAGACGCAAGAATCTGGAGTTTGAGCCTTTGTCCACCACCGCTCTTATTCTGGAAGACAGACCTGC[G/A]TAAGTGTGAAACGTGAAGTTCAGCTCCCATAATGCATTGCTTAAACTACTGCAAGCACCCATTTAATCAAATATTTACCCAAATTCCCTGGCCGCTGCTAGTGAAACATAAGCCATCACACCAAATGTGTGCATATGAACTTGAAGGGCAGGTTTTATTATTAAAGTAATTGAACAGAACAGTTTGTGCTTGGCGTATTGTTAATTATTACAATTTGTGGCTGCTTATAGTATAGTTACTGTGAGCCACTGTTACTCATAACCAGACAAATTTCACACATGAGTGAGATTACTTTTCATATTGATGTAACTTAGGAACTTGTGGGGTAAAACTAGCTGGAATGTAGTTGCTTTGCTTTCCAGATAACATAATAGTAGAGAGCAAATATTTCTGTGAACAAAGATGTAACTGCATATTCAGCAATTGATGAAGCAGATTTTATAATATAAGGATTAACAATCTCAAAGACAAATACTTGGGTAAATGCGTGCCCTTTCACT
Associated Phenotype:
Not determined