ZMP
tbc1d23
Ensembl ID:
ZFIN ID:
Description:
TBC1 domain family member 23 [Source:UniProtKB/Swiss-Prot;Acc:Q7SXV1]
Human Orthologue:
TBC1D23
Human Description:
TBC1 domain family, member 23 [Source:HGNC Symbol;Acc:25622]
Mouse Orthologue:
Tbc1d23
Mouse Description:
TBC1 domain family, member 23 Gene [Source:MGI Symbol;Acc:MGI:1914831]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa26757 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa17445 | Nonsense | Available for shipment | Available now |
sa13842 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa26757
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000065138 | Essential Splice Site | 254 | 680 | 7 | 18 |
ENSDART00000126418 | Essential Splice Site | 254 | 527 | 7 | 16 |
ENSDART00000126524 | Essential Splice Site | 254 | 680 | 8 | 19 |
Genomic Location (Zv9):
Chromosome 6 (position 28643548)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 28939191 |
GRCz11 | 6 | 28929752 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGATAACATCCTTATCCAAGAAGGAGACAACAAAGAGGAGATAATCAG[T/A]AAATTCTTCAGCAAATTATTTAATTAGAAAATGCAATATTTTATGAAAGT
Long Flanking Sequence:
AGTAATTTCTATTTTTTTCTAAGAACTTGGTTGGGAGTACAGTGTCTTGTCAATAACTCATTTGGACAATACTGGCTTATTATATAAATTTTAACATCTTACATTCCCTAATTTAAATATAATTTGGATCAAATCTGCACAGTGTAATGGTCATAGTCATAAAATGAATCTAATATATGTTAATTTCAGAGGTGTGCTGAAGAATGTACTTTTTGTTTTTGTTTTTGCTTTTGCAGCTTGGGAGTCTTTTTTCGAGCCACTGTTTACCTGAAGTCACACAGGCCTTGTGGGATGTTTATCTCCAGCAGGCCGACCCTTTTCTTATCTTCTTCCTTATGCTCATCATCCTAGTCAATGCCAAGTATGTGTGCAGTTCAGATTCAGTGAACTCGATTGTTACATTTTAATACTTTATGAGATCAAATACATTTGTTGTTGTTTTTTATTTCTAGAGATAACATCCTTATCCAAGAAGGAGACAACAAAGAGGAGATAATCAG[T/A]AAATTCTTCAGCAAATTATTTAATTAGAAAATGCAATATTTTATGAAAGTTTGGGAACCACTTGAAAATGAGAAGAATAAAAACGACAGCTCATTAAAAAGTGCAAGTATTAGTACTTTCCCAAATCAGGTGTTTTACATCAAAAATTTTACATATAGTTTTAAAGACAAAAACGTATGTAAAATTATTAAAATAACCCTGTGCAAAATTTGAAAACTCTTGGTTCCTAATAATACTTTGTCGACAGTTTGCCTTTTTTTTTTTGCTTGTTTGAGGGTTGTTCATGAGTCCTTTGTTTGTTCTGAACAGTTAAAATGCCTGCTGTTCTTCAGAAAAATACTCCATATCCTGCACATTCTTCAGATATCCAGCAATGACTACTCGCCTAATAAAAAGTTTCACTGACGCTCCAAAATGAAACATGAAGGGTGCCAGGGAGTGAAAACTTTTTGAATTTAAAAGTAAATTGTACATAATTTATTCTCATGAAAACATACAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17445
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 |
---|---|---|---|---|---|
ENSDART00000065138 | Nonsense | 271 | 680 | 8 | 18 |
ENSDART00000126418 | Nonsense | 271 | 527 | 8 | 16 |
ENSDART00000126524 | Nonsense | 271 | 680 | 9 | 19 |
Genomic Location (Zv9):
Chromosome 6 (position 28640643)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 28936286 |
GRCz11 | 6 | 28926847 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGCTGGAGCAGTCGCMGTCATTACTAGAGGCAGWGGACATTGAAGACT[T/A]GTTCTCTYTAGCGCAGTATTAMAACAGCAAGACGCCTCTATCTCTTAGAA
Long Flanking Sequence:
CAATAAGTAATAATTCTGTTTTGTCAGAGTTTAGGAGGAGGAAATGAGTAGATCATTGGTTATTTTCACTAATGCGGTTTCTGTACTGTGATGAGGCCTGAAACCTGACTGAAACACTTCAAAAACATTGTTCATCTGCAGAAAGGAGCATAATTGGGCAGAAACAACTTTTCTAGTATTTTAGAGATATATGGAAGAATTGAAAAAGGTCTATAATTAGCCAAGTTGCTGGGGTCCAGTTGTGGTTTCTTAATAATAGGCTTAAAAAGAGCATTCTTCAAAAGCATTTTATATGATCTCTCTTATTTTGTTAAAAATATTCACATTTTCTCAGTTTCTGCAAGGGGTTCTTAAACTTTCGCTTAACACTGTACATTAAAATATTTGTTGCTTTGTCCAATATGGCCAAAGTGTTCTGCTTTTAAAAGTTTTCTTCTTTTTTTCTCCAGAAATGCTGGAGCAGTCGCCGTCATTACTAGAGGCAGAGGACATTGAAGACT[T/A]GTTCTCTTTAGCGCAGTATTACAACAGCAAGACGCCTCTATCTCTTAGAAAGGTAAGCATTATATCAGTGTTCTTTGGACTGGGTAGTGTTCTGCCAACTTCCTCATGAAATGAATCACCTCACAATAGGTGCATTAATGTTTATGATGCAGCAAAGTGGCATAAGTAAGCAGGTGTTGCATGTATGTATATGTGGTTTATTTTTGTGCAGGAGAACCATAATCTGTTTGGCAGTAGTCTGGTAGCCCTTAAGGAAGAAGACATGGACCTGAGTCAGGCACTCTGTCTGCCTGTGTCAGTCCCTGAGATCCTGCAAGCCAACCAGCTACAACCTGTGAGTTCTCAGTCTACGATAACTGTGAAAGACCACTCCATATCCTCTTTTGTTAGAAATGTTAATGATCAGGGCTCTGTACTAAAGCTGCTATGAAGTTAAGACCTGTTCGCCGCAAGCATAAACTATAAAATATAACATAAATATACAAAATTATAGGTTGGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13842
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 |
---|---|---|---|---|---|
ENSDART00000065138 | Nonsense | 278 | 680 | 8 | 18 |
ENSDART00000126418 | Nonsense | 278 | 527 | 8 | 16 |
ENSDART00000126524 | Nonsense | 278 | 680 | 9 | 19 |
Genomic Location (Zv9):
Chromosome 6 (position 28640621)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 28936264 |
GRCz11 | 6 | 28926825 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTACTAGAGGCAGAGGACATTGAAGACTWGTTCTCTYTAGCGCAGTATTA[C/A]AACAGCAAGACGCCTCTATCTCTTAGAAAGGTAAGCRTTATATCAGTGTT
Long Flanking Sequence:
GTCAGAGTTTAGGAGGAGGAAATGAGTAGATCATTGGTTATTTTCACTAATGCGGTTTCTGTACTGTGATGAGGCCTGAAACCTGACTGAAACACTTCAAAAACATTGTTCATCTGCAGAAAGGAGCATAATTGGGCAGAAACAACTTTTCTAGTATTTTAGAGATATATGGAAGAATTGAAAAAGGTCTATAATTAGCCAAGTTGCTGGGGTCCAGTTGTGGTTTCTTAATAATAGGCTTAAAAAGAGCATTCTTCAAAAGCATTTTATATGATCTCTCTTATTTTGTTAAAAATATTCACATTTTCTCAGTTTCTGCAAGGGGTTCTTAAACTTTCGCTTAACACTGTACATTAAAATATTTGTTGCTTTGTCCAATATGGCCAAAGTGTTCTGCTTTTAAAAGTTTTCTTCTTTTTTTCTCCAGAAATGCTGGAGCAGTCGCCGTCATTACTAGAGGCAGAGGACATTGAAGACTTGTTCTCTTTAGCGCAGTATTA[C/A]AACAGCAAGACGCCTCTATCTCTTAGAAAGGTAAGCATTATATCAGTGTTCTTTGGACTGGGTAGTGTTCTGCCAACTTCCTCATGAAATGAATCACCTCACAATAGGTGCATTAATGTTTATGATGCAGCAAAGTGGCATAAGTAAGCAGGTGTTGCATGTATGTATATGTGGTTTATTTTTGTGCAGGAGAACCATAATCTGTTTGGCAGTAGTCTGGTAGCCCTTAAGGAAGAAGACATGGACCTGAGTCAGGCACTCTGTCTGCCTGTGTCAGTCCCTGAGATCCTGCAAGCCAACCAGCTACAACCTGTGAGTTCTCAGTCTACGATAACTGTGAAAGACCACTCCATATCCTCTTTTGTTAGAAATGTTAATGATCAGGGCTCTGTACTAAAGCTGCTATGAAGTTAAGACCTGTTCGCCGCAAGCATAAACTATAAAATATAACATAAATATACAAAATTATAGGTTGGCATAGATTTTTTTTTATCTGGAAT
Associated Phenotype:
Not determined