ZMP
cr855317.3
Ensembl ID:
ZFIN ID:
Human Orthologue:
CLCN1
Human Description:
chloride channel 1, skeletal muscle [Source:HGNC Symbol;Acc:2019]
Mouse Orthologue:
Clcn1
Mouse Description:
chloride channel 1 Gene [Source:MGI Symbol;Acc:MGI:88417]
Alleles
There are 10 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22800 | Essential Splice Site | Available for shipment | Available now |
| sa32083 | Nonsense | Available for shipment | Available now |
| sa13816 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22800
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000089292 | Essential Splice Site | 205 | 817 | 6 | 24 |
| ENSDART00000131328 | Essential Splice Site | 280 | 697 | 7 | 17 |
| ENSDART00000144994 | None | None | 88 | None | 3 |
Genomic Location (Zv9):
Chromosome 16 (position 19566611)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 17596934 |
| GRCz11 | 16 | 17504911 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTAGGATGTGCTGTTGGGGTGGGCTGCTGTTTTGGGACTCCCCTTGGAGG[T/A]AAAAATTTCCATTTCTTTCTTTCCCCATTGATTTCATTTCCTCTTCTGTC
Long Flanking Sequence:
CCCCCCCCCCCCCCATTCCCCCGATTCACCTAGAATAGTGCCCATGTTCAGGATCTGCTGGTGTGTGCCTGTGCAGTGGGAGTGGCCACCTGTTTTGCTGCCCCAGTGGGAGGCAAGTCTAGCCCACTTTTACCAAGCATGCATTGCATTTTACCATGTTCATCTCTTTTAATTGCATTTATGCTTAGTTAATGTATGTATAAAGCTGGGATTTGAGTTTGCCTTTTGAACTCTGCTTTTTCTGATCTTTATTTATCTTTTCTTCTGTTTTATTTGTTCCCCCACAATGTACCCGCTGACATTGTAATTTGTTCTTCTCTTTACATTCTTTTGTTTTCCTCACCCTCTAACACACTCATTCTCCTGTTTGCTTTTACTTTAAACTCCCTCTTTCTCTCTCTTCTGTCTTGGTGTCAGTAGAACCCCTATGGTTACACAGACATACTGACAGTAGGATGTGCTGTTGGGGTGGGCTGCTGTTTTGGGACTCCCCTTGGAGG[T/A]AAAAATTTCCATTTCTTTCTTTCCCCATTGATTTCATTTCCTCTTCTGTCTCCTTCGGCTTGATGCCTGCTTAATAATTAACTTCATCATTACTTCACAGTTAAAAGCACCCATGTGTTATGAATTCTTATTCATAAAAAAATTATGATCATATTAACTACTGTTACTATTACTCACTTTTTTTGGTTTCTGAAGTATTTTCCACTAAAGATTTTAAAATCTTCATTAAAACATTTTAAAGGGCACCTATTTTAACTGTTTTTCAAGATTAAATACAAATCTTTTTTGTTTCCAGAGTGCTTCTGTAATGTTTTAGCTCAAAAATACCCATCGTATTATTTAGTATAACTTTCTGAATGTGGGAGATCTGATCTGTTAGAACACTGTAGCTGTTTTTGTTGCCTGTGCTTTTAATGCAAATGAGCTGGTTCTCCCCACTCATTGTTCACATTTGCATTTCAGAGCTATAAAGATCTCTCTCTATTGCTCTGATGCTTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32083
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 |
|---|---|---|---|---|---|
| ENSDART00000089292 | Nonsense | 207 | 817 | 7 | 24 |
| ENSDART00000131328 | Nonsense | 282 | 697 | 8 | 17 |
| ENSDART00000144994 | None | None | 88 | None | 3 |
Genomic Location (Zv9):
Chromosome 16 (position 19563074)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 17593397 |
| GRCz11 | 16 | 17501374 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTAATCTTTTTTTTTTTTATTCATGTTTTCTCTGTCTCTCAGGTGTGT[T/A]GTTCAGTATTGAGGTCACATCAACATACTTTGCTGTGAGGAATTACTGGA
Long Flanking Sequence:
AGCCAGCTATTTAAAAGTATTTGAAAATCTGACAAAGATGCGTTGGTGAATGCTGTAATGAGAGAAAAAATACAATCCCATTAGCCTTTAAGGCAGGGGTGTCCACACACAGTCCTGGAAGTCGAGTGTCTTGGAGAATTTAGTTCCAACCCTAATCAAACACACCTGAACAAGCTAATCAAGCTCTTACTTGGTATACTAGAATGTTTCAGGCAGGTGTGTTGAAGCAAGTTGGAGCTAAAGTCAGCAGGACACCGGCCCTCCAGGAGCGACTTTGGACACCCCTGCTTTAGGGTCTATTTATTTAATTTAAGGTCTATTACTGTTAATGGTGGTTTGTTTGTGCATACTGTCATTCCAGTTTATCTATTAAGTTTTTACTCTTGTTACCATTTTTTCTATTTTTAACTGTGTTTTCTCTCTAACTTTCTTTCTAAGCGTTAACTTTGTTTTTAATCTTTTTTTTTTTTATTCATGTTTTCTCTGTCTCTCAGGTGTGT[T/A]GTTCAGTATTGAGGTCACATCAACATACTTTGCTGTGAGGAATTACTGGAGAGGATATTTTGCTGCAACATTCAGTGCCTTTATATTTCGAGTACTGTCAGTATGGAACAAAGACTCTGGTGAGACACACATACACACACGCAGGTAGATATAATAATGATAAATGCATGAATTTCACAATATATGACGAGCTGTTCACTGCTGACTGATCATGATAAATGAAACACATTAAGCAACATTTTAGTCTGGACCTTGTTTTTGAGTGACCAAGTTGTTTCAAATATGCTGATGTAAAATTCTCTGTGTATTAGTTGTGAGATTTTTTAGTATCTTTTTTTGCAGGTTACATCATTAAAACAGTGGAAATAGGAATGAGTCTTTTTTATTTAGCAGTGAAACTCTTGTGCTGTGTGTTCAAGGTTCCCATGGACTGTTTGATGCATATCACTGTCTTCATGTTTATTTAGTCTTTCATTCAGTCTTCGGGTTTGAAATATCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13816
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 |
|---|---|---|---|---|---|
| ENSDART00000089292 | Nonsense | 543 | 817 | 15 | 24 |
| ENSDART00000131328 | Nonsense | 616 | 697 | 16 | 17 |
| ENSDART00000144994 | None | None | 88 | None | 3 |
Genomic Location (Zv9):
Chromosome 16 (position 19555350)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 17585673 |
| GRCz11 | 16 | 17493650 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATATCTTTGTGGAGGACATCATGGTGAAGAAAATAAAGTTTCTGTCACCT[C/T]AGTCYACTTACAGAGAGCTRAAAGATCTCCTGGAGTCCACGTCTCTTAAA
Long Flanking Sequence:
GTTTGTGTAGGGGCAGCAGCTATGACAGGAGCAGTCACACATACAGTTTCAACAGCAGTGATCTGTTTCGAACTGACAGGCCAAATCTCACACATCCTACCCATGATGGTGGCAGTGATTCTCGCCAACATGGTAGCCCAGGGTTTACAGCCTTCTCTTTATGACTCCATCATTCAGGTCAAAAAGCTGCCATATCTTCCAGAGCTCGGCATCGGTCACATCAGGTACCATAAGCAGAGATATGGAAACTGACATATAAATATAAAATATTGGATTTGAATTAGTGGTAGTGGCTCTCACCTTCAAGCTCTTCAAGCTATATCATTTTCTTTGGGGTTTGTTTGATGATTTTGCTCTTTGTGTCCAAAACAAGGAGAATGCCAAAAATGATGGACAGACACTATTAAGCTTTTGACATTTCTCTCTTGTTTTTCTATGACAGTAAATATAATATCTTTGTGGAGGACATCATGGTGAAGAAAATAAAGTTTCTGTCACCT[C/T]AGTCTACTTACAGAGAGCTGAAAGATCTCCTGGAGTCCACGTCTCTTAAAACCATCCCGCTCATTGATTCCAAAGGTATGTATTGTGTGATCAATCTACTTTTTATTTCATAGTGCACAGTTTATTTTAGATTCTTTTCAGACTATGTGTTCTATTCAGTATAATGAAACAAAACATTGCATGAAAAAGTATGATTACTCAAACATACAAAATTTGTTTTACAATCATTCATACATATTTGTGATAAAATTAAAGTCACAATTATTATAATTCATGTATTCATTCATTTGTTTTCTTTTCCATACAAATTCATTCACACTCATACATTACGGACAATTTAGCCTATCCAATTTACCTGCACCGCATGTCTTTGGACCGTGGGGGTAACCGGAGCACCCTGAGAAAACCCACGCGAACATGGGGAGAACATGCTCCGAACAAACTCCACACAGAAACAGCAACTGACCCAGCCAAGGCTCGAACCAGCGACCTTTTTGCTG
Associated Phenotype:
Not determined