ZMP
si:ch211-201p7.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
CACNA1H
Human Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]
Mouse Orthologue:
Cacna1h
Mouse Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit Gene [Source:MGI Symbol;Acc:MGI:1928842
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15566 | Nonsense | Available for shipment | Available now |
sa32587 | Splice Site | Mutation detected in F1 DNA | Not yet available |
sa18685 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa1668 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15566
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 |
---|---|---|---|---|---|
ENSDART00000132539 | None | None | 717 | None | 17 |
ENSDART00000133407 | None | None | 204 | None | 4 |
ENSDART00000137417 | Nonsense | 117 | 208 | 2 | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 7410208)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 7650013 |
GRCz11 | 1 | 8334124 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGGGATGGGCGGATATCATGTATTATGTCATGGATGCTCATTCCTTTTA[C/A]AACTTCATCTATTTCATCTTCCTTATCATCGTAAGTGCACARTAATTAAT
Long Flanking Sequence:
GGTGAAAACAATCAGGATAATGACGTCTAAATAAGAGGGCGTGGTAACTGAAGACAAAGAGGAAAGACAAGTGGAGTACATGACAAGCAAAAGACGAACAGGGAAACATTAAACACTGATAGGACAGACAAGACTATCAGATCAGGACCCTGACAGTTTATCATTCTGTTTAGAGCATCAACATTTAAAAAAAAAGTGCTCATTTAGAAGAATAGCATACACAGTTCACATGTCTGCAAGTATTACAAAAAAGAGTTTTAGATAAGTAACACGCGGGCCTCCTCTCTTCAACCTATTATAAACATGTTTCCTGACATAGTTTTGGGAAACTGATGAACAATCTGTGAAGAAGTCCTTTGTTTTTGGCACTTTATTGAAAGGCTTTGTTTGCTTGATGACTGTTGTAGCCTTTATGATGGTGTTTGTGTTTCTCCTCAGGTCATCACGTTAGAGGGATGGGCGGATATCATGTATTATGTCATGGATGCTCATTCCTTTTA[C/A]AACTTCATCTATTTCATCTTCCTTATCATCGTAAGTGCACAGTAATTAATTAACTGACACGTCTTCCTCTCTTTTAACCTCTGCTGGAGTCTGTGCTTTCATTAGTTGCATGGAAATGGCTTTTGCTATCATCAGGGGTGTAAATTACCACAGTCGTTTTACTTGATAACTATACTTAAAGAGATGAAAATTAAAATTCTGCCACGGTTTTTAGAGAATTTGAGATTGAGAGCTGCGGAAACTTGTTTCCATGGTGATTGCTTGTTCTAAGGGGGAAAGTTGAATTTTATTACACCATTCAATCTTAGACCTTCTTATTTAACTTTCATCAATGTGTAAATATCCGTCTATCTAAATGTGTAATACAAATCACACAATTTTTTTTGATAAATCGATCAAAGAAAGATGAAGGTCAATCAAAGTGCACTGCTGCATCCAAGTTCGCATACTATCCTTCCTGTTTTAGTTTATTTATTTAGCAGTCTGCACCGATAGCCTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32587
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:
Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000132539 | Splice Site | None | 717 | None | 17 |
ENSDART00000133407 | None | None | 204 | None | 4 |
ENSDART00000137417 | None | None | 208 | None | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 7452137)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 7691942 |
GRCz11 | 1 | 8376053 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATACTGTTGCAACACTGAATATGTGTGTGTGTGTATGTGTGTGTCTTA[T/A]CAGGGTCATAAGCAGAGCTCCTGGACTGAAGCTGGTTGTTGAAACATTGA
Long Flanking Sequence:
GCAGCTATATCTTGAATTACTTGTGGATGAGAAAGTTAACAGGACATTTTCATTTTGGGGTGAACTATACCTTTAAGTACGCATAAGGATTAAGTTGTATATGCAATATAAAAAAAACCCTTCATATTTAATTTGCACTTCAAACCAAAAGTTGAGTCACCCCAGCTCTGACTTTGAACAAGAGAAAACACGTGCACCCACAAAGTTTGTTCTGCCACTGTCCGCGGTGCTGAAATCACATTTAATCTTCTGTCATTGTCAGGAAAACTGTTCCACTAGACACATTTGAACAAAACAGAGCATCTCTCAAACACGGCAATATTGTGCTGAGCTGACTTCTGTTCATTTCAAGGCTAACACCGCAGAACATCTTGCACGTCAGCGTGTTGTGCAACGCTGAGCCCTTTTATTAACAGCTTCTTTCTAGTTCAGTGCGCCTGCATTGAGCTCAGATACTGTTGCAACACTGAATATGTGTGTGTGTGTATGTGTGTGTCTTA[T/A]CAGGGTCATAAGCAGAGCTCCTGGACTGAAGCTGGTTGTTGAAACATTGATCACGTCTCTCAGACCTATTGGGAATATTGTGTTGATCTGTTGTGCTTTCTTCATTGTCTTTGGCATTCTGGGAGTTCAGGTACGCATAAACCCGAGTCTAAAACATTGCTTAGTGACATTCATTAATGTTTATGCAGATCAGATCAATTGTTAGCATTGTAATTAGCAGTTTATTTGCATTGCTGCTGTCTAAATGTAAGCTGTTGTTCATTTTTCAGCTCTTTAAGGGGAAGTTTTATCATTGTGAAGGCTTTGACACTAGAAATATCACCAATAAATCAGAGTGCCTGCAGGCTAAATACAAATGGATCCGTCGGAAGTACAACTTTGATAACCTGGGTCAGGTAGGACACACTCACAAAAACACACACACATACACATAGACTTTAACAGGGTATTCATAAAGATTGAATTATGTGCACTGGAGGCATTACTAGCATATTTTATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18685
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000132539 | Essential Splice Site | 233 | 717 | 6 | 17 |
ENSDART00000133407 | None | None | 204 | None | 4 |
ENSDART00000137417 | None | None | 208 | None | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 7452533)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 7692338 |
GRCz11 | 1 | 8376449 |
KASP Assay ID:
2259-0152.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAAATACAAATGGATCCGTCGGAAGTACAACTTTGATAACCTGGGTCAG[G/A]TAGGACACACTCACAAAAACACACACACATACACATAGACTTTAACAGGG
Long Flanking Sequence:
CTGAGCCCTTTTATTAACAGCTTCTTTCTAGTTCAGTGCGCCTGCATTGAGCTCAGATACTGTTGCAACACTGAATATGTGTGTGTGTGTATGTGTGTGTCTTATCAGGGTCATAAGCAGAGCTCCTGGACTGAAGCTGGTTGTTGAAACATTGATCACGTCTCTCAGACCTATTGGGAATATTGTGTTGATCTGTTGTGCTTTCTTCATTGTCTTTGGCATTCTGGGAGTTCAGGTACGCATAAACCCGAGTCTAAAACATTGCTTAGTGACATTCATTAATGTTTATGCAGATCAGATCAATTGTTAGCATTGTAATTAGCAGTTTATTTGCATTGCTGCTGTCTAAATGTAAGCTGTTGTTCATTTTTCAGCTCTTTAAGGGGAAGTTTTATCATTGTGAAGGCTTTGACACTAGAAATATCACCAATAAATCAGAGTGCCTGCAGGCTAAATACAAATGGATCCGTCGGAAGTACAACTTTGATAACCTGGGTCAG[G/A]TAGGACACACTCACAAAAACACACACACATACACATAGACTTTAACAGGGTATTCATAAAGATTGAATTATGTGCACTGGAGGCATTACTAGCATATTTTATTAAACAATCAACCTTCTCATTTGCCCTTTTTTCCAAAGCGTTCAAGCAGCCCTTTATGTTTGAGATTCAGGTCACACAAGCACATTTCATCAAGATGACAGGGATCTGCTGGACATGCTTTCTCATTCCTATTGTTGCATATGTGATGTCTGGGCAGCTTTAATGCCCTGGTGTAATTTCTTCACATTAGCATCTAACATATGGTTCATTTTTAAGTAATTTGAATATCTGTCATGCTCTGACAGGCCATAATAAATGCTCATTTTTATTGGTTCACAGGGTACACAGTAATTGTTTTAGTGACAGTAACACACACATATACTGTATATATATATATATATATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1668
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 |
---|---|---|---|---|---|
ENSDART00000132539 | Nonsense | 520 | 717 | 14 | 17 |
ENSDART00000133407 | None | None | 204 | None | 4 |
ENSDART00000137417 | None | None | 208 | None | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 7472160)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 7711965 |
GRCz11 | 1 | 8396076 |
KASP Assay ID:
554-1615.1 (used for ordering genotyping assays)
KASP Sequence:
ATTCATTAACTTTGATTCAGATTGCACTGAGGAGAACCCCTGTGAGGGTT[T/A]GAGCAGACATGCCACATTTCAGAACTTCGGCATGGCTTTCCTTACTCTCT
Long Flanking Sequence:
ACCTGGTTAAGCTTTTAAAATCACTTTAAGCTGTATAGAAGTGTCTTGATAAATATCTAGTCAAATATTATTTACTGTCATCATGACAAAGATAAAATCAATCAGTTATTAGAAATGAGTTATTAAAACTATTATAGTTAGAAATGTGTTGACAAAATCTTCTCTCTATTAAACAGAAATTGGGGGAAAAAATAAACAGGGGGGTAATAATTCAGGGGGGCTAATAATTCAGGGGGGCTAATAATTCTGACTTTAACTGTATATAAAATAAAGTGCAGAATATATATTTATTTAAAACAGTGCGGTAATTAAATGAAACATTTTAGAAAAACTCAAATGGATTTTATAGGCATTAAATAAATTTAATGCATTTTTACATCAATATATAAGTGCTTTATATTGTATAGTGTAGTTATTTTTTGCGCAGTGTTTTGAGATATGAATTATTAAATTCATTAACTTTGATTCAGATTGCACTGAGGAGAACCCCTGTGAGGGTT[T/A]GAGCAGACATGCCACATTTCAGAACTTCGGCATGGCTTTCCTTACTCTCTTCCGTGTTTCCACCGGAGACAACTGGAACGGCATCATGAAGGTATTTGCCAAATTGTGACATCACTCATCCTGCATCTTACAAATTAGACCAACACAGGCTTATTGTAAATATGTGCCCCTGTCTACATTTCTGGACACTGCAAATGATGTAGCCAAAGGTATGTCTGGCTGCATTTCATCTTTCAAACGAATGCTACGGCATAGTATGATGCCACATTCAGATTCTGTTCATTTTAGCTCTACCAGCTGACCATTTTCCTCTGTATGAACGGCTTTTCTGGTGCTACCAGTTTGCCCAGTAGCTCGCTCCATACATCTTCAGACTTGGAATGCACAGCAGAGTTGACCACGACGATGGGGTTCAAATCAGGCAAAGAACAGTTCCAGAAACAAGGTAAAACAAAAGCAAAAAATAAATAGATACAAACAACAGACTGAAAACGTGGTGA
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |