ZMP
tbc1d5
Ensembl ID:
ZFIN ID:
Description:
TBC1 domain family member 5 [Source:RefSeq peptide;Acc:NP_956905]
Human Orthologue:
TBC1D5
Human Description:
TBC1 domain family, member 5 [Source:HGNC Symbol;Acc:19166]
Mouse Orthologue:
Tbc1d5
Mouse Description:
TBC1 domain family, member 5 Gene [Source:MGI Symbol;Acc:MGI:1919488]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa36824 | Essential Splice Site | Available for shipment | Available now |
| sa23504 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa36824
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111409 | Essential Splice Site | 33 | 533 | 3 | 18 |
| ENSDART00000140711 | Essential Splice Site | 33 | 842 | 3 | 22 |
| ENSDART00000111409 | Essential Splice Site | 33 | 533 | 3 | 18 |
| ENSDART00000140711 | Essential Splice Site | 33 | 842 | 3 | 22 |
Genomic Location (Zv9):
Chromosome 19 (position 20912355)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 20845735 |
| GRCz11 | 19 | 20430058 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGAGACGGGTTATGACCCTCTACAAAACTATAACAGAAACAGAGACCG[T/C]AAGACACTTGATGCATTTACATGCAAATTAGAGGCCTTGCCATGTGAAGA
Long Flanking Sequence:
CATTTTAATGTCAAAACTATTAGCACCTTTAAGCTTTTTTTTTTTTTGATAGTCTACAGAACAAACCATTGTTATAGAATGACTTGCCTAATTACCCTAACCTGCCTAGTTAAGCTAATTAACCTAGTTAAGCATTTAAATGTCACGTTAAGCTGTATAGAAGTGTCTTAAAAAATGTCTAGTCAAATATTATTTACTGTCATCATAGCAATGATAAAAGAAGTCAGTTATTAGAAATAAAACTATTATGTTTGGAAATGTGCTGAAAAAAATCTTCACTCCGTAAAACAGAAATAGGGGGGAAAATAAACAGGGGGCTGATAATTCTGGGGAACTAATAATTCTGACTTCAACTGTATGTTTATATGTCTTTAGCTCTTCCTCTGTGGGTTTTTGTAGGTCATGCAGCACCCAAACTTTGAAACGCGGCACCCGTTGCAGCAGGACGAGCAAGAGACGGGTTATGACCCTCTACAAAACTATAACAGAAACAGAGACCG[T/A]AAGACACTTGATGCATTTACATGCAAATTAGAGGCCTTGCCATGTGAAGAACAGGGTTGTATATTTTGTATAGCAGTTACATTTAATAATATTGGCAATTAGCTGAAATGGAAGAACATAAAAGACAACAGGTGTTAGAATAAAATACTCCAACTAAATCACATTATTTTATATTCACATATTATAACTTGTATTAAAAATGTCTTCATCTTGACTTTTTAAAAATCAATTTACTTTAATATATTCTTGCTAAAACAGAATATTAATTTATTTTACATACTAGATAAAAATACTGTATTCCTGTTTGTTTTGCTTATGTTTTTAAATATCCAAACAGCCCTCAATTCAACCTTGAATGTTTTTGAGTTTTAAATTGATTTGTTTACATGAACAGTTTAAACATATTTATGAAATATGATTCAGTTATGATGTTTAATATTGTTTATGAAGAAATTGTTATCAGAAATACTTTAAAAATCTCTTTTCTAGTATTAAAAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23504
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111409 | Nonsense | 86 | 533 | 6 | 18 |
| ENSDART00000140711 | Nonsense | 86 | 842 | 6 | 22 |
Genomic Location (Zv9):
Chromosome 19 (position 20911272)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 20844652 |
| GRCz11 | 19 | 20428975 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATGTGAAAGTATAGATTATAATGATGAGTTTCGATGATTCCAGCTTTA[T/A]CTGGACGTCCTACCAGAAGATAAGGCTCAATGGATCAGTCGAACCAAGGA
Long Flanking Sequence:
CATTATGGAAACGATACCCCTCGGTTTGAATAGTTTTGCCACCTTGTGGCATAAATAATTTTAGTTAAGTGTTTAGATCTTCAATTATGGTGCCTGAACTATTTTATTTGTATAATCTTTTGTATTTCAGGAGGATCATTGGGCAGTGCTGTTGAGTCCACCCTTCAGTCCTACAGGTCTTTCATCAGACGCTCATATCTGAAATTGACTGCTGTGTGCTAAAAGTGTATCTCTTTCTTACAATGCTCTATTTGATGCACTGTTTTACAGAAAGGAGTGGGATGATTTGTTCCAGAACAGTAACTACCTGCCTAGAATCAGACAGGCAGGCATTAACGGGCGATTACGGAGCAGCCGATTCCGCAGTGTTTGCTGGAAGGTAATGGCCACCTGACAGCTTTAAGTGTCTTTTTGTTGTTATCAGGGATGAAAGGTGAAATGTGGAAATTTTGATGTGAAAGTATAGATTATAATGATGAGTTTCGATGATTCCAGCTTTA[T/A]CTGGACGTCCTACCAGAAGATAAGGCTCAATGGATCAGTCGAACCAAGGAGCACAGAGCACAGTATGAGAAAATCAAAGAGATGGTATGTATGTGGCAGGAATTTGTGTGTCTTCGGTTGGTTTCGGTACTAAATTCTGGTTGTTTATCTTGAACTGCAGCACATCACGAACCCTCGTAAAGCTGCCGGCCAGCAGGACCTGGTGGTGAACAACCCACTGTCACAGGATGAGGGGGTAAGGCAAACATACAGTTCAATTATACCATACTTGGTCTAAATAAACCAGTGGTTTCCAATCTTTTTAACTTGCAGCCCACTAAAGCCAGCATGTACACTCACCAGCCACTTAATTAGGTACACCTGTCCAACTGTTTATTAACGCAAATTTCTAATCAGCCAATTACTTGGCAACAACTCAGTGCATTTAGGCATGTAGACAAGACCCTGTGTTTCTATCTAACTAATTTATTTGCACATTTTGAAACATCACATAAAAATGC
Associated Phenotype:
Not determined