ZMP
CACNA1H (3 of 3)
Ensembl ID:
Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]
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 11 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31190 | Nonsense | Available for shipment | Available now |
| sa15566 | Nonsense | Available for shipment | Available now |
| sa1681 | Essential Splice Site, Missense | Available for shipment | Available now |
| sa16883 | Essential Splice Site | Available for shipment | Available now |
| sa1668 | Nonsense | Available for shipment | Available now |
| sa18648 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31190
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 |
|---|---|---|---|---|---|
| ENSDART00000103611 | Nonsense | 124 | 2016 | 4 | 41 |
| ENSDART00000141604 | Nonsense | 242 | 1660 | 7 | 33 |
Genomic Location (Zv9):
Chromosome 1 (position 7390937)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 7630742 |
| GRCz11 | 1 | 8314853 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTATGTATCTGTGTCTCTTAGGTATGCGGATTCTGGTGACATTGCTGT[T/A]GGACACTTTGCCGATGCTGGGAAACGTCTTGCTGCTTTGTTTCTTTGTGT
Long Flanking Sequence:
TATGAAGTAGTAAAAGTATAATTACACTGAGCATGTTAAATAACAAAGAATTACTTTCTTTAGGTATGGATTACATCTTCCAACAAAAATGATGTTCCAGGATCAACAGAGATGTTAATCCAGGATCGCATCGTACTAAGCAAAATCATCACATGCGATCCAGGAGTAACATCTCTGTTGATCCTGGAACATCATTTTTGTTCAAAGTGTAATCCACACCTATTCCCTACCCTAAACCCAACCATAACTGTAAATTATTCCCAAAATCAGAGCGCAATAACAGTTGGATAACACTCATGTAGAAGTGCAAAAACCTAACTGTAAGCCTTAACATATACAGTAAACGTATCTCTTAATTCTGATAGGCTGATTTGAATGTTGTTCCAGGATCAACATAGATGTTAATCCAGGAACATGTCCTACTTGGTGAAAACATGTTGGCATAGGTGACATTATGTATCTGTGTCTCTTAGGTATGCGGATTCTGGTGACATTGCTGT[T/A]GGACACTTTGCCGATGCTGGGAAACGTCTTGCTGCTTTGTTTCTTTGTGTTCTTCATCTTCGGGATTGTAGGTGTGCAGCTTTGGGCCGGGCTTCTCCGCAACCGCTGTTTCTTTGACAACAACATCAGAATGTAAGTGCAAAACACAGAGATTTTCAATGCCTGCAGAGGTGTGCATATCTGGTGTTATTCCAAAATCATAGTGCAATAATAAATGCTCTGAAATCACAGCGTGTGTTCCTCGGGGAAACCTGTTTGGGTTGTTTTATTAGATGAAATGTGTCAATATAAATTATATTGAGTTGTTTCTCAGTTTGTAAAAAAAAAAAAAAAAGCTTCTTTACAGCAGTGCAAGTGTGTGAAAAATCTACACTTTTTGTAATTTAGAATCTCAGTAACATATTTGGGTCAATATTGACACCAAAACACTAAAAACTGCTTTTTTAAGGGAATGAACATTTTTTTAACATTTGAAAAGCACTTTTTTTTTTTACTGTTTT
Associated Phenotype:
Not determined
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 |
|---|---|---|---|---|---|
| ENSDART00000103611 | Nonsense | 293 | 2016 | 6 | 41 |
| ENSDART00000141604 | Nonsense | 411 | 1660 | 9 | 33 |
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:
sa1681
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 > A
Consequence:
Essential Splice Site, Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103611 | Missense | 478 | 2016 | 7 | 41 |
| ENSDART00000141604 | Essential Splice Site | 596 | 1660 | 10 | 33 |
Genomic Location (Zv9):
Chromosome 1 (position 7412788)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 7652593 |
| GRCz11 | 1 | 8336704 |
KASP Assay ID:
554-1627.1 (used for ordering genotyping assays)
KASP Sequence:
AAGGGCTTGAGGCTCGGGATGAACTATCCCACCATCCTGCCCTCCAAAAT[G/A]TACACAAATTCACATGCTCGTGGAGTAAAAGCTCCAGCTTTCCATCATGG
Long Flanking Sequence:
CTGTGCCTGGTTGTCATCGCCACACAGTTCTCCGAGACCAAACAACGTGAGAACCAGCTGATGCAGGAGCAGCGCGCTCGATTTCGCAGTAACGAATCCACCTTAGCCAGCTTAGCCGAACCCGGATCCTGCTACGAAGAAATGCTCAAATACCTCGCCCACGTTTGCCGCAAACTCTGGCGTCATGTCGTACGCATCTATGGGGATTTATGTCCCAAGAGGCGAAAGGGCGTGGCTAACCCTGGCACCTCCCTCTCTGTGGGCGGGACTAATGGATATTGGAGCGATAATGGGACGAAGATGGGTCCGACTCAGTATTGTATGCTGCACTATCATCACCCTCATCAGCATTACATAAGCAACGGCATAGAAATGAAAACACTTCAACTAGATAGAGACGCTCATATTGCAAAAAAGACGCCATCTCTCCCACTTGCACTACAGAATTTAAAGGGCTTGAGGCTCGGGATGAACTATCCCACCATCCTGCCCTCCAAAAT[G/A]TACACAAATTCACATGCTCGTGGAGTAAAAGCTCCAGCTTTCCATCATGGAATTTACGGCAGGAAGATCTCTGTTTGTGGTGGATATCATGACACTTACAAGCTGCAGCACGGTAAGAATGCAATTACATTCCTATATTAATTGTAGCTTAAAGGTGCAAATACTTTTTCGAGGGCTAATGTATATATTAAGTAAAACTAGTGCAATCTGTATGCAAAACTGAAGGGTTTTGGCCCTGCTGTTATGTTTAAAATGTGACTTTGGGTTTTTTGGATTAAGAGTAAATTCTGTCTCAGGGGTTTTAACTTAATAACATAGATAATGAAATTCTTTCTTTTTTTCCTCTCTCGCTTTGCGCACTTGACATGCCCTAATAATTCCAAATTGAATTGAGGGAATCGTCTGCACAAACACACACTCTGTCTAGTCATTATTTCTGTGCCTCTTGACTTTTGCCTGAAATTACCTGCTGAGGAATCCTTGAGAGTTTTTTTTTTTTT
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa16883
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103611 | Essential Splice Site | 845 | 2016 | 16 | 41 |
| ENSDART00000141604 | Essential Splice Site | 834 | 1660 | 15 | 33 |
Genomic Location (Zv9):
Chromosome 1 (position 7435018)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 7674823 |
| GRCz11 | 1 | 8358934 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TMCTCTTCAATTTACTGGTTGCCATCTTAGTAGAGGGTTTCCAAGCAGAG[G/A]TAAGATRTCAGATTTTGGYCAGWTTWACTAACAGTTTGCACCAGCACAGA
Long Flanking Sequence:
TGTTTACCGGCAAAGTTATAATGTCTGTTGTGGGACCATCAAAATAAAATGTTAACAGATATATCGAGCAGACCATATACTAGTATTAGTCCTAGTACTCTTATGGCTGATAGTCTACATTTTTATTCTACATAGCAAATTATTTATTGTCAGCAGAAACATCCAAAGAGTAACATCAATATACAGTATGCTATTAAGCATTTCAATCGAAATATGAATTCTAGGGCTGATGTTGTAATCAATAAATGGCATTTTGATATTTTAGCAGCTTATAAAAATAACTGTTTATTGGTGGTAGATATGTGATGTGATATTTGTGCTAATGCATATGTGTGTGTCTGCAGATTTTGACGCAGGAGGACTGGAATGTGGTTCTGTATAACGGCATGGCCTCCACATCCCCATATGCAGCTCTATATTTTGTGGCCTTGATGACATTTGGGAATTACGTCCTCTTCAATTTACTGGTTGCCATCTTAGTAGAGGGTTTCCAAGCAGAG[G/A]TAAGATATCAGATTTTGGCCAGATTTACTAACAGTTTGCACCAGCACAGACCCTCTTGGCATTAAAAAAAAAAAACACAGTCAGGATTTACTACAGTGCAGTGAAAACTTGCTCATAAAAAAAGGTCATAGACACAATTATTTTTGCCGCTGGCCTTATTGTATATGCATTTGAGTTTTCCTTTCAGACACACAATTTATGGGAGGAGGAGAGTATTTAAATGAATTGTGCAAAGTGATTTACTGGAGCACAAAACCAGTGCAAAGGTGTATTTGTGGGAATAGTCAATAATTCATTGTGTGAATTAAAATTATATTATTTTCTAATCATTAGAATTTTAAAAGAGCCGTGAAATTAAAATAATTTTTTTAGATGTAAAAGTATCAGTTTGTTAGTCATAAGGATATCTAATGTGCTCCAAATAGTAAAAAATTCACATTTAGAAGATATAAACCTGATATAAACATTTAAAGCTTGCAGTTTATCACTACCGTCTAAGT
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 |
|---|---|---|---|---|---|
| ENSDART00000103611 | Nonsense | 1584 | 2016 | 36 | 41 |
| ENSDART00000141604 | Nonsense | 1463 | 1660 | 30 | 33 |
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 |
Mutation Details
Allele Name:
sa18648
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 |
|---|---|---|---|---|---|
| ENSDART00000103611 | Nonsense | 1990 | 2016 | 41 | 41 |
| ENSDART00000141604 | None | None | 1660 | None | 33 |
Genomic Location (Zv9):
Chromosome 1 (position 7479745)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 7719550 |
| GRCz11 | 1 | 8403661 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAAAAAGGATAAAATGAGTCCGCCRTGCATCTCCATTGAGCCTCCCGCT[G/T]AATCTGAGGTTGTCAGTCAGGAGTGCTCCTCAGTCCTGCGGCGACGGACT
Long Flanking Sequence:
GCGATAATCTTCATCTCAAAGTCCCCAGCGTTCCCATCGGCGGCAGATCAGCCCCCTGTTCACCCCAGACCTCCCCTCCTCCTCCCCTCCGCAACCGGACCGCCAGCGTACAAACAAACAGACATGTGTACAGCCAGCGCAGCATCCCCTGCCGACAAACTGCCATCAAACCACATCCAGATGCGGCTGTCCGACTCAACACCAACAGAAGAGCGTCCCGCCACAGTTTGTCCCCTCACCACCCATCCCTCTCTTCCGACACCCAGTCTCAGGATTCATTGCATGTTGGAGCGCCCCGCCATCAGGATACTAGTCTACGGAAGTACAACAGCATGGAAAACAATGGCTTCCTATCTCAACCCCAAATCCCACGACGACACTCGACGCACGGAGAGGAGTTACGTCTTCAACAGGATCCATCATCATCATCATCATCATCATCCCATACGCCCAAAAAGGATAAAATGAGTCCGCCGTGCATCTCCATTGAGCCTCCCGCT[G/T]AATCTGAGGTTGTCAGTCAGGAGTGCTCCTCAGTCCTGCGGCGACGGACTCCATCATTTGACTCGGCTCTTCCACGTGAGTCCTTAGATCTTCCGGACGTCCAGGACGAGCCTCATTTGCCTAGTCGTTTGCCCCTCCCACAGTTCTCCTTTGACCAATCGGATGTTAGTTCCCTGAGCAGCCTGTCAGAGCTGCTTTCGGATAGTGACCAGTCCACGCACTCGATTGCCCACGAGAGCCGCTCTGGGTTTGCGGGAGACGCAGCGCACAGTCCACTCAGGAAGAAGGTCTTGGTCAGAATGGCCAGCACTAGGGATCCGGGAAATGATGATTCGCTTGCCTAGTCGCCCGCTTTCCCGATCCGCCTCTTTTTTTCTGATTGGACGAGGGAGGCGTAGGCAAAAGTATGCAAATGTGTTTCTGATGGAACTGATGTTTCCTTGCCTGATCATATTGATTGGGGAACTTTTGTTAGTGTTCGTCACGCACATCGATATTTG
Associated Phenotype:
Not determined