ZMP
camsap1b
Ensembl ID:
ZFIN ID:
Description:
Calmodulin-regulated spectrin-associated protein 1-B [Source:UniProtKB/Swiss-Prot;Acc:A5WUN7]
Human Orthologue:
CAMSAP1
Human Description:
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Mouse Orthologue:
Camsap1
Mouse Description:
calmodulin regulated spectrin-associated protein 1 Gene [Source:MGI Symbol;Acc:MGI:3036242]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16582 | Essential Splice Site | Available for shipment | Available now |
| sa20574 | Nonsense | Available for shipment | Available now |
| sa17585 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16582
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000082776 | Essential Splice Site | 439 | 1558 | 10 | 18 |
| ENSDART00000147707 | Essential Splice Site | 439 | 1558 | 11 | 19 |
Genomic Location (Zv9):
Chromosome 5 (position 68612774)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 64944996 |
| GRCz11 | 5 | 65624111 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCCACTGAGACAAAGACAGAAGAAAGCTCAGCCAGCAGAGGAAAGCACGG[G/T]TATTRAATCAAACTATGGCCATTCARTTCAAATATGTWTTTATGCTTGCA
Long Flanking Sequence:
ACAGAAGAAAGTGACTCAAACTAGTTTGGAACAAGTGAAGGGTGAGTAAATGATGACAGACTTTTCAGATTTGGGTGTAATATCCCTTTAAAGGAGTTAGAAAAATCACTGGGCTTGCTCTTATTTCACAGGCAAATAAAATACAAGCTATTTGGGCGTTTTATTGCAGTGCTAATGCCAGTAATACTGCTCTGTAACTGTGATATTTGGACTGCTGTAGATCCAGATTTCTATATAAGGTCCTACACAGAGCAGTGCTGTCTATATTTGTCCATTCAAATGGAAAATGCTTTGTGTCAGTTACGATTAGATTTTTGTTGGATAGACCTCTGGGGGCCTGGAGATCATTCGTTTTCAGTTTTTGTGCTGGTGGTTTGCCAACTTTGTTCTCTCTGCTTGCTGTTTCAGTAACAAGGGGAGTTCTGGCTTCAGCCCCTCACATCCACTTCTGCCACTGAGACAAAGACAGAAGAAAGCTCAGCCAGCAGAGGAAAGCACGG[G/T]TATTGAATCAAACTATGGCCATTCAGTTCAAATATGTTTTTATGCTTGCATGAAAAATGTACATAAAACATGTTGAATCTAATTCAGTTTTTTAATATTTAATGCCTGTATGTAGTTTATGACAGGTAAATCTAATCTGCTTTGTTTTGTTTTATGGCAATCTTTACTTTCAAAAAGATGTATAGAGTTTACAAAACATCATAAAGTGTGAATGTAATAAATTCCTAAAGAAGAATAGATTCATGTTTAGAACACAAGTTAAGAACAATCTCCTAATTAGAATGTTTTTAGGAAATACAAAACGGTGAGATATTTGTAAATGTTCATATATACAAAATAATTATTTTTTAAATATTTTATTTGTTTGCTCATACTTTTCTGACTCTCATTTCTGGTTACCATGAACCAGGAAAACATAGTCATAAAACTGTAATTTGTGAAATAAACTTTAATAAATTTTTACACCTATATTAATGCTGCACGATTCTGGTTAAAATGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20574
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 |
|---|---|---|---|---|---|
| ENSDART00000082776 | Nonsense | 861 | 1558 | 12 | 18 |
| ENSDART00000147707 | Nonsense | 861 | 1558 | 13 | 19 |
Genomic Location (Zv9):
Chromosome 5 (position 68609784)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 64942006 |
| GRCz11 | 5 | 65621121 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACACCACAGAACAAGGACAATGCCAACATGCTGGCATCGGAACTTGTT[C/T]AACTCCACATGCAACTTGAAGAAAAGAGACGTGCAATTGAATCCCAAAAG
Long Flanking Sequence:
GGTCACCTGGGTTTTACCTTCATTCTTCGGTCACTGAGGAAAAGAGGCCTGTCCAAGCGTGGGACGCCCATCCAGGGACATCTGATATAGAGACAGTGGAAACTATTGAAGAGCAGGATGCAGAACTCACCAAAGAGCTCCACCCAGACAAGAAGCAGCATTTTGAGGAGGAAGTAGAGTCTGCCAAACTGCGGGAGGACATGAATGTGAAGGAGCATGAGGATAAGGATGGTGGGAGCAGGTGCTCTAGCCCTGGCCAGCAATCCCAGGTCAGCAGTGTAGCTAGTGGGAGTATACGAATGACCAGCTTTGCAGAACGAAAAATGCAGAGGTTTGGTAGTAATCAAGATATCCGCTCAAGCACAAGCAGCTCACAGCGGACTACACCAGACGGCTCAGAGAGTTGCCCCCTTCCTCTGACCTCATGGAGGATGAAGAGAGACCAGAGTCCCACACCACAGAACAAGGACAATGCCAACATGCTGGCATCGGAACTTGTT[C/T]AACTCCACATGCAACTTGAAGAAAAGAGACGTGCAATTGAATCCCAAAAGAAGAAGATGGAAATCTTGACAGCAAGACAGCGGCTTAAGCTTGGGAAAGCAGCCTTCCTGCACATAGTCAAGAAAGGCAAGAGTGACACTCTCCCGCAGCCTACCAAGTCTGAGTTCTACTTGAAAGAGGGCCAAAAACTCAATGAAGAAAAGGAGGTGTCATCAAAAGATGATACCTGCGTTGATGCCTTGAGAGACCGGTCAAAAGAGGCTGAAGAGCCAGAGAAGGCATCTTGCGAGTGGGCAGGTGGTGGGACTGTGTCTTCTAGTCCCTTGGATGTGGAGGAGGAGGTAGATCTTAATGAATGCAATCGCTCTATTGAATTACTAAATGAGGCCATAGGAAGCATTCAGCAACAGATGATGCAGCTTTCTCTTCAGCAGGAAATGCTCATGAAGCAGAATATTCAATCGCCAACAAGTGCTACTTCACCACTTGCCAATGACCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17585
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000082776 | Essential Splice Site | 1274 | 1558 | 13 | 18 |
| ENSDART00000147707 | Essential Splice Site | 1274 | 1558 | 14 | 19 |
Genomic Location (Zv9):
Chromosome 5 (position 68607442)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 64939664 |
| GRCz11 | 5 | 65618779 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GYAAGCAACAACTGGAGGCTGAAAGTGAGCAGAAAAGAGATGAAACCAGG[T/C]AATGGATAAAGTCTGGTCCTTTAGGAAKATAAAAAYGGAGGGNAAAAAAA
Long Flanking Sequence:
CCAAAATGTGATTATGAATTGTTTCTTTCAGTTTGTTCGGTTCGTTTTACTTCATAACAGGACCTGCTGCCTAATTGAATGCATGTAATAGCGACACCCGGTGGTTATTTATTGAAATTTTTCGGAAATTTATCGGTGGTTCATTTTTGTATGGCGGGCCAGATTCTATTAATATTCATAAAAAGCCTCACGGGCCGCCACAAAACTGATCACCGGCCGCAGATGGCCTGCGGGCCGTAGTTTGGACACCCCTGGATTAGGGACTTTGTAAACAGACTTTTCCGACTAAGCATCACTTTGACAACTCTCTAGAGCTCTTATAACACCTTGACAATATCCTACAATACTACTTTTGCCTGCAGGATGAGCAAAAAGCAGAGGATGAATTGGCCAAAAAGCGAGCCGCATTTCTCCTGAAACAACAGAGGAAGGCCGAGGAGGCTCGACTCCGCAAGCAACAACTGGAGGCTGAAAGTGAGCAGAAAAGAGATGAAACCAGG[T/C]AATGGATAAAGTCTGGTCCTTTAGGAATATAAAAATGGAGGGGAAAAAAAGTAGAAGTTGAATTATCTGCTTGAATTGTCTTTTATTTCCCAATATCAGGAGGAAAGCTGAAGAGGAAAGAATCAGAAAAGAGGAGGAGAAGGCCAGGAGAGAGTTGATAAAGCAAGAGTACCTTAGGAAGAAACAGCTGGAGCTGTGTGAAGAGCAAGAACAGCCTCAGCCCAAACCCAAGACCAAGCCCAAAAAACAAAGGCTGAAGTCTGTGGTGAAGGAGGAACCCTCCATTGATCCTCTTCCCAAGTGCCCTGCTGCCAGTAATTGTTGAATTTGTGCCTTCTGCTTTTTAGACAACAATATAATAGAACAACAAAAAACATTGACTGCACTTTAACTGACCTATTGAATCTCTGTCCCTCACCAGATGAGAATCTCATCAGTGCCCAGTCTGGCTCTAGTCTATCACTGGCTTCTGTGGCCACCACTGAACCAGACAGTGTCAA
Associated Phenotype:
Not determined