ZMP
tbc1d17
Ensembl ID:
ZFIN ID:
Description:
TBC1 domain family member 17 [Source:RefSeq peptide;Acc:NP_001019565]
Human Orthologue:
TBC1D17
Human Description:
TBC1 domain family, member 17 [Source:HGNC Symbol;Acc:25699]
Mouse Orthologue:
Tbc1d17
Mouse Description:
TBC1 domain family, member 17 Gene [Source:MGI Symbol;Acc:MGI:2449973]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33193 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33193
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017422 | Essential Splice Site | 107 | 639 | 4 | 17 |
| ENSDART00000077057 | Essential Splice Site | 107 | 582 | 4 | 16 |
| ENSDART00000134395 | Essential Splice Site | 107 | 582 | 4 | 16 |
Genomic Location (Zv9):
Chromosome 3 (position 30333889)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 30051928 |
| GRCz11 | 3 | 30182770 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGTCAAGCAGGACAGACGGCAGGAGCAGCCACCGGTCAGAGAAACCGG[T/C]ATTGCGTTAAACCCACACTAGTCAAAATGATACATCTCATGCATTTACAT
Long Flanking Sequence:
ACTACAAAATTTTACACCTTTACATCGGACCGTTTCTTTCTTTAATTCACTCACAGTGTGCTGTTAAGACCCCACTGCCTTAACCGCGTCAGCTAAACTCTCCCACTCTATTTATTTATTTTGTTATTAATTCCGGAGAAAAAACTTGCAAATAACATAATAGTTTTTCTCTGGTTTCTCTTGAGAATATGCGTGGGATTTTGCATACGTAGTGTTTCATACATCTGAATTTTTTACTGCGTACGCAGATTTACAGCTCTGTGTGTACCAATGTTTTAGTATGAATTCAACGCAAATCTTCATACATGAGGCTCCTGATGTTTGTGATTGTTTTCTACATGACTTATATCTCTTAATCTCTTAAATGTTGTCTCCTGAAAGGATGGAGAAGGAGGAGAGGAGGAGACCAAGTTTGACCCTGGTTATGAGCCAGACTGGGCCGTCATCAGTACAGTCAAGCAGGACAGACGGCAGGAGCAGCCACCGGTCAGAGAAACCGG[T/C]ATTGCGTTAAACCCACACTAGTCAAAATGATACATCTCATGCATTTACATACATGCTCATAAATATTGATGTTTGCAGGTCACTGGAGCTCGTTCTCTCTGCCACTGTCAGAGCTGTACTCTCTCCGGAGGGCTCGCTTCTCCCTGGGCAGGAACTTCTTGGTTCTGACCACCAGAGGGGGTGATCCTCTCCCTCCTCTGCACTTCCATCGTGGAGGCACCAGAGAGCTGCTCAAAGCCATGCAGCGCTACATCAGACTTGCCCCGTGAGTGCCATATACATGTATTTTTACCAGTCCTCACCAGTAAAAAAAAAAAAAAAACAATTTACAAAATATTGTAAAAAAAAAAAAGGGACTGATACTGTAGCACTGTAAAATACATTTACACTTTAATTTAAAACATTAGCATATCAAGCTTTTATTTTGACAGGCTGATTGCAGATAGAAAGTTTCAGAGTGAAGTGCATCACATTTTTGTTTTCATATACATTTCAATGTA
Associated Phenotype:
Not determined