ZMP
cep290
Ensembl ID:
ZFIN ID:
Description:
Centrosomal protein of 290 kDa [Source:UniProtKB/Swiss-Prot;Acc:P85001]
Human Orthologue:
CEP290
Human Description:
centrosomal protein 290kDa [Source:HGNC Symbol;Acc:29021]
Mouse Orthologue:
Cep290
Mouse Description:
centrosomal protein 290 Gene [Source:MGI Symbol;Acc:MGI:2384917]
Alleles
There are 10 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38046 | Nonsense | Available for shipment | Available now |
| sa38045 | Nonsense | Available for shipment | Available now |
| sa11985 | Nonsense | Available for shipment | Available now |
| sa13473 | Nonsense | Available for shipment | Available now |
| sa1383 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38046
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000090921 | Nonsense | 765 | 2439 | 20 | 52 |
Genomic Location (Zv9):
Chromosome 25 (position 18454675)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 17870985 |
| GRCz11 | 25 | 17967385 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCCGAAGAAATGACGCCCACTAGTGCGGAGGCCATCAACGCTCTCAAT[G/T]AGTACACGGTTCAGCTCCTGCAGGTGTGTGGCAGTCCAGTATTGTGTTAT
Long Flanking Sequence:
AAACTTTGAAAATTAGAGAGCAATGACAGAATATCATGGGAAGCAGAGAGATAGGAAGGATCAGCAAAGGTTCTCGAGCTGGGAATTGAACTCTGGTCACCGTGAGCATGTCTGTGTTATACGTCTTATTTAGGCTATTCAACTGACCAGTCCTTAAATCTTAGGTAGAAATTAAACTTTTAACACCATAATGACTTTTAGGTACTACTATCTCAGTCAAATTTAATATGCAAATAATTTGCGATTAATTTGATTCATTATTCATTTTAATTAATTAAATAAAAATGCAATCAACTGTCAGCCCTACTGTAAATATATCCACTTTTATGTTTTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGTAGATCGCTCGCTTGGAAAGTGAGATGGAATCAATGAGCAAATCTACTGGCTCTTCCATCCCTCACAAGACATTAGCTTTGCCCGAAGAAATGACGCCCACTAGTGCGGAGGCCATCAACGCTCTCAAT[G/T]AGTACACGGTTCAGCTCCTGCAGGTGTGTGGCAGTCCAGTATTGTGTTATGATGGAAACCATATGTGAGGTGTACATAATATTAAGACTCCCAACTGCGGATGTTCAGGAGATCAAAAACAAGGGAGATTCCATTGAACAGCTTGGTTCGGCTCTGGAAGAGTACAAAAGAAAGTTTGCTGTCATCCGCCATCAACAAGGACTACTTTACAAGGAGCATCAAAGGTATGCCGAGCCGTAAAGATTGTTTATATTATAAGACGTGTTATATATATCAATTTTACATATGTTCAGTAATCAATAAAGCATGATTTTCAATCACCTCTTGTGCTTCGCTTCAGCGAAAGAGAGTCTTGGCAGAAAGAGCGGGACTCTTTTGCAGAGCTGAAATCCAAACTTGAGGAACAAAGGGAGGTGGACGCAGTAAAAATCAAAGAGTACAACGTAAGTCTCTTAAAGGGATAGTTACAAATGCAAATGATGTCACTGTGTTTTCATCCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38045
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 |
|---|---|---|---|---|---|
| ENSDART00000090921 | Nonsense | 951 | 2439 | 24 | 52 |
Genomic Location (Zv9):
Chromosome 25 (position 18449663)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 17865973 |
| GRCz11 | 25 | 17962373 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCCCTAGACGTCAGTGTTCCTGCTTCCGAGCTGGAGAGAGCCAACAAA[C/T]AATACACTGAGCTCACCATCAAATACAGAAACCTCCTCCAAAAGGACAAC
Long Flanking Sequence:
ACGAGAAGTGTTTGACACGCCGTTACACCACTCTGCTGGAGCTGGAGCAGCACTTGAGGAAGGAGAATGCAAAACTAAAGGAGGATTTCACTCAAATGCAAGCCGCAGTTACAGAACGCATTGGCTACTTGCAGAGGTTCAAGGTATTTGCCTGCTCAGTACATCACTTCAACAGATAGAAAAGAACTTGGTGAATGATTTATTATTAGTAGATGCACCAATATAGGTTTTCAGTCGACAGTACTGATTTTGAACAAGGTTGCAAAAATTTTTTTAAAAGTCAGGGCTTGTTTAGGCCAATTAACTGGCCTGTTCAGTACATAAGCTTGGTCTTTCTTTATGAGCTATGGCTGTCATCTTTGTTACAGGTCTGTCACTGACCTGTACTGACCTCTATAAACCTGTTTTCCCCTCAGGAAATGGCTGCTTTTAAAATGGCCTCTTTGCAGAAATCCCTAGACGTCAGTGTTCCTGCTTCCGAGCTGGAGAGAGCCAACAAA[C/T]AATACACTGAGCTCACCATCAAATACAGAAACCTCCTCCAAAAGGACAACCACCTCGTTCAGAAGACCACCAGTCTGGAGCACCTGGAGGTACAGTACATCTTATGCACATCACACTCCACTAGTGTCGGCACCTTTGGTAGATATTTTATTTTTTTCAAATGTATTTATTTTTGTGGTAATTTTGTGTTGATATGTAATTATATTTGGTTCATGGTGCCTTCGTATTGTAAAAAGGTGTTTAGGTCCTTTGATAAAAAAAACAATAAAGAACAACAAACATATTTAACTGTCAGCATGACAAAGCTCTGGTTTTCCATAGGCTTACTGTTGTGTGCACCAAACTCTATATTGGTTTTACCTGACCATATAACCAGTGACCGTTTGCACAAACATTGGCATTTTGTTAAAAGTTAGTTTTATATTCTAGTTTGGCCATGTAGCTGTTATTTAAAACCAAATTCAATAGTTAAGAGCAGTCTTTATGGAAAGAAAAACACG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11985
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 |
|---|---|---|---|---|---|
| ENSDART00000090921 | Nonsense | 1223 | 2439 | 29 | 52 |
| ENSDART00000090921 | Nonsense | 1223 | 2439 | 29 | 52 |
Genomic Location (Zv9):
Chromosome 25 (position 18443399)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 17859709 |
| GRCz11 | 25 | 17956109 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCRCAAACACACGTCTGCAGAAACTGGAGGCGCAGAAGCTCCGTGACGAA[C/A]AAAAACTGGATGAGCAACAGCAGGCACTCTGGCACGCRAGGCAGGAGGGT
Long Flanking Sequence:
ACTTCTCCAGACATGCCCACACTTCCCTGGAATACAGATTAAAAATGTAAGGGGAAAAAAATCAAACAATATCAAATTAGCCACTTTATAAAAAAAAAAAAGCTGAATTTTAATTGGAGCAAAAAAAATCAAATAAAAGCCCAATTCATTTTCAGAGTACTTAATAAAATTCAAACTTAAAATAAAAGTGTATTAAATGTTCAACGTTGCATTTTCTTCGGTTCATTTTTTTTTTATTAAAAAAAGGAAAGTAAATCTTGATTTTCATCTGCTTTTGAGAATCATTATTAGAATCATGAAATAAAAAAACAATTGATTGAAAATTCTTTGTTAATAATTGCACTTCTCCTCTACAGGCTGAGTCTGATGAAAAGGCCCTGATCGCCAAACTCCATCAGCACATTGTGGCTCTCCAGCTGAGCGAGACCACAGCAATTAGCCGTCTGGAGGCCACAAACACACGTCTGCAGAAACTGGAGGCGCAGAAGCTCCGTGACGAA[C/A]AAAAACTGGATGAGCAACAGCAGGCACTCTGGCACGCGAGGCAGGAGGGTCACCAGCGGGCCAGACACCTCCGGCACACCATCCAGGCCCTCCGCAGACAGTTCTCAGGAGCCCTGCCGCTGGCCCAGCAGGAGAAGTTTTCAAACACCATGCTCCACCTTCAAGAGGACAGGGCTCGGGTCAGAGAGGATGCACAGATAACGGAGGAAGAAAGAAGGAAGGCAGAAGGGAAGGCGCAGGAACTGGAGCTAAAGCTGAAAGGCTTGGAGGAGCTCATAGCAACACTCAAAGATGCTAAAGGGGCTCAAAAAGTAGGTTGATTGATTACAGACAAAGCTGTGATGTGAAAAAATACCTAGCTACATTTTCAAGAATAAGTTGTGTATGCAATTTCTAAAAAATAATGCACATTTATTGTGATGATAGAGTGTAGATGGATAAATGAATTATAAACAGTTTAAGAGTGGATGGATGGATGGATGGATGGATGGATGGATGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13473
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 |
|---|---|---|---|---|---|
| ENSDART00000090921 | Nonsense | 1223 | 2439 | 29 | 52 |
| ENSDART00000090921 | Nonsense | 1223 | 2439 | 29 | 52 |
Genomic Location (Zv9):
Chromosome 25 (position 18443399)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 17859709 |
| GRCz11 | 25 | 17956109 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCRCAAACACACGTCTGCAGAAACTGGAGGCGCAGAAGCTCCGTGACGAA[C/T]AAAAACTGGATGAGCAACAGCAGGCACTCTGGCACGCRAGGCAGGAGGGT
Long Flanking Sequence:
ACTTCTCCAGACATGCCCACACTTCCCTGGAATACAGATTAAAAATGTAAGGGGAAAAAAATCAAACAATATCAAATTAGCCACTTTATAAAAAAAAAAAAGCTGAATTTTAATTGGAGCAAAAAAAATCAAATAAAAGCCCAATTCATTTTCAGAGTACTTAATAAAATTCAAACTTAAAATAAAAGTGTATTAAATGTTCAACGTTGCATTTTCTTCGGTTCATTTTTTTTTTATTAAAAAAAGGAAAGTAAATCTTGATTTTCATCTGCTTTTGAGAATCATTATTAGAATCATGAAATAAAAAAACAATTGATTGAAAATTCTTTGTTAATAATTGCACTTCTCCTCTACAGGCTGAGTCTGATGAAAAGGCCCTGATCGCCAAACTCCATCAGCACATTGTGGCTCTCCAGCTGAGCGAGACCACAGCAATTAGCCGTCTGGAGGCCACAAACACACGTCTGCAGAAACTGGAGGCGCAGAAGCTCCGTGACGAA[C/T]AAAAACTGGATGAGCAACAGCAGGCACTCTGGCACGCGAGGCAGGAGGGTCACCAGCGGGCCAGACACCTCCGGCACACCATCCAGGCCCTCCGCAGACAGTTCTCAGGAGCCCTGCCGCTGGCCCAGCAGGAGAAGTTTTCAAACACCATGCTCCACCTTCAAGAGGACAGGGCTCGGGTCAGAGAGGATGCACAGATAACGGAGGAAGAAAGAAGGAAGGCAGAAGGGAAGGCGCAGGAACTGGAGCTAAAGCTGAAAGGCTTGGAGGAGCTCATAGCAACACTCAAAGATGCTAAAGGGGCTCAAAAAGTAGGTTGATTGATTACAGACAAAGCTGTGATGTGAAAAAATACCTAGCTACATTTTCAAGAATAAGTTGTGTATGCAATTTCTAAAAAATAATGCACATTTATTGTGATGATAGAGTGTAGATGGATAAATGAATTATAAACAGTTTAAGAGTGGATGGATGGATGGATGGATGGATGGATGGATGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1383
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 |
|---|---|---|---|---|---|
| ENSDART00000090921 | Nonsense | 1844 | 2439 | 38 | 52 |
Genomic Location (Zv9):
Chromosome 25 (position 18437783)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 17854093 |
| GRCz11 | 25 | 17950493 |
KASP Assay ID:
554-1295.1 (used for ordering genotyping assays)
KASP Sequence:
AACACTTGAATGAGCTGAAGAAGAAGATTCAGAGGCTCAGCAGTGGCCTA[C/T]AGGTCAAATGCATTTTTCTTTTTTTTTTTGCAGTCCCTNGTACTGTGAATG
Long Flanking Sequence:
AATTCATAACATTAAAATATGATGAAAAGTGCTCATTTTAAATGGCTCTTTTAAATTTATTTGTTTTATTTTTTAAATCGGCCAGTTACCTTTAATAATTGTTTGTGAAGCGTTGAAGAGTATATTTTGGTCATCGTTTGTCAATCATAAAATACCTTTAAATGTAACTGATTGGAACAACGAATGAACTTTCAACATTTTATGACCCTTAAAATTTTAAGAGGACTGAATTTTATCCGAGCCCTAACAAAGCAAATAATGTTCCCCATGTTCCCCATCAGGCTTGTGTGAGAGACCTTAATGAGGAGCTCCAGCTGGCTAAGGATGGAGTACGAGCGGCAAAAGCCAGAGAAAACTCCCTTAAAGAGGACCTGGAGACCTTGAACAAGGATCTTCAGAGGAGCCAAAAATCACAGAATAAGCTGCAGAGTGAAAAGGAGGCTTTGGAGGAACACTTGAATGAGCTGAAGAAGAAGATTCAGAGGCTCAGCAGTGGCCTA[C/T]AGGTCAAATGCATTTTTCTTTTTTTTTTTGCAGTCCCTGTACTGTGAATGGTTAAGGTCATGAAAATCTTGTCTTGCTCTTCTTGAGTTATTCAAAAGCACTTGGACAGTGAGTCAGCGTCCTTTTCTTTTTCCTCGAAAAATGAAGAGCTTCTGCTCACTGTCTGGATGAACAGAGCCCTTCTTTGATAGCAGTGAATACGTCTAGACACTATTGTGCACCTCCTCGCTCTTATCAAAGGTTGCAGCCTTTGGGAAGAAATAAACAGAGCCATTAGAAGCTATAGTCATAGTCCTATCTGCTTCTTTTACATTTAAAGTGATTCAATTAACTTTATTTAGCACCGTTCAACTTTCAAAACCTGTTTACAAAAAGTGCTTTAATAAAGACACACTGCAGATCAGAATATTTGCAGATATAACCAATATGAGCATATTTTTTGTTTGTGTGCGCAGGCTCAGGTTGAGAGCGATGGACCCACTGTAGATGCTCTTCAGAAG
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |