ZMP
si:dkey-14o18.5
Ensembl ID:
ZFIN ID:
Description:
chloride channel 1, skeletal muscle [Source:RefSeq peptide;Acc:NP_001076379]
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 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23449 | Nonsense | Available for shipment | Available now |
sa32234 | Nonsense | Available for shipment | Available now |
sa12840 | Essential Splice Site | Available for shipment | Available now |
sa10992 | Essential Splice Site | Available for shipment | Available now |
sa17158 | Essential Splice Site | Available for shipment | Available now |
sa16717 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23449
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 |
---|---|---|---|---|---|
ENSDART00000041094 | Nonsense | 92 | 1011 | 2 | 23 |
ENSDART00000133359 | Nonsense | 26 | 945 | 2 | 23 |
Genomic Location (Zv9):
Chromosome 19 (position 10270856)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 9729395 |
GRCz11 | 19 | 9648320 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCATCTGGATCTGGAGATAGGGAGCATTCATGATAGACCAGAGGAGGAG[C/T]AGGGCCACACGTCGTCCTTCAAGAAACGCCGCTCTTACTCCAAATGCAGA
Long Flanking Sequence:
AGTTTTTCCATCCATCTGTCCATCCATCCATCCATCCAATCTACTTATCTGTCTGTCCGTCCATCTGTCCGTTAGTCCGTCCGTCTGTCTGTCTGTCTGTCTGTCTAATGCATTTATCTGTCTGTCTATCTGCCTGTGTGTCTATTTATTTTTTTATTATTATTAAATCCTGCTATAGTTTTTTTGTTGATTCAGGGGTAATGACGCTGTAAATGTCTTTCACCAAAAAGTGTCAGCTTATTTACCGATATTTTTTGGATGTTTTCCTCTGTTCTCAGCTATATGGAGAGTACAGAGAGCACCCTGGTGGGTCTCAGCGGAGAGAGGCTACTCGCCTTCTGATGGAGAGACAGCGGAAAAAACATGGACATCACCACCACCACGGACACTACCATCATGCTCACCAGGGGCGCAGTCACAGCCGAAGCCGAAGTCGCCATCATAGCCGGCCCCATCTGGATCTGGAGATAGGGAGCATTCATGATAGACCAGAGGAGGAG[C/T]AGGGCCACACGTCGTCCTTCAAGAAACGCCGCTCTTACTCCAAATGCAGAGGTCAATAATAATGAGCCTTGAAAAGCAGATGCCAATAATGTTTGAGAGGTTTAGAGTCTGATTGGGATTGTAATGTTTTCCCAGACTGTGTGGCTCGAGTACAGAAGTTCCTTGTCTCGAAATTGGGAGAAGACTGGATCTTTCTGGTGTTGTTGGGTATTACCATGGCGTTAGTTAGCTGGAGCATGGATTATGCTAGTGCCAAGAGTCTGCAAGGTACTACTTCACCCAGAATTCCACAGCTACTACTGGCTTTTTCTTATATGTTATGTGTATTGTAGGTCCAGTTTATTTTTGTTCTCATTTTGGTGTAATATTTCAGGGGTTTTCAAAGTTCTTAAACATGTACTGTGCATAACCAAAACTGTAGTATGTTTAGGGCTCAAACAAACAAACAGCAAAAAAAATCGTTCAACAGTCTGAATCCGGCAGATCTACAACACCGATAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32234
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041094 | Nonsense | 459 | 1011 | 12 | 23 |
ENSDART00000133359 | Nonsense | 393 | 945 | 12 | 23 |
Genomic Location (Zv9):
Chromosome 19 (position 10252854)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 9711393 |
GRCz11 | 19 | 9630318 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAATATGGGGATCCCCCCTCCCGCCGGGACTCGGACGCTCTGCTGTGTG[G/A]TTTCATCCTGACGTCAGCATCTTTGTCATTCTTATCCTCTTTTTGATCAT
Long Flanking Sequence:
ATTTCGCTACATTTCTCAAATATTTGCAAACGATATGAATTATTAGATTATCAGACATATATTTGCATCAGCAAATCCATCCGACTGACAATGGTACTAAATGCTGCGTTGTTTACACTTACATGTCAGAAGTTCAGTTTCCCTTTGCGGAATGAGAAAACTTTTCTGCCCAGGAAACTAAATTCAGGAAAACTGAGAGTAAGGCATAACAAAATTTGGGGTGAACTATCTCTTTAATGTACAGACACTAGGTGTATTCACATATAAAACTTCACAGCAAATTTTGTGAACAGTTAGACCCCAAGTGATAATATTGTAAACCACTACACTATTGTCTTGGCATGACTGGATTGTTGAAATACTTACTTTGATTTGGTTTTTGCTTTTATTATCCTGCAGCTGATGCCCAGGGAGTGCATCAACTCTCTGTTTGATAACTTCACCTGGACTAAAATATGGGGATCCCCCCTCCCGCCGGGACTCGGACGCTCTGCTGTGTG[G/A]TTTCATCCTGACGTCAGCATCTTTGTCATTCTTATCCTCTTTTTGATCATGAAGGTTGGTTGATTTTAATCTTCATCAGTTGTCTCTAATGTATATATCATATCTCAAAGTCATGTTGTCATCTTTAAAGGATTAGTTGACCAAAAATCAAAACACCCTTTCATGCATACGATCACACCGGTGTGATTAGATCATTATAACGCACATCACAAATTCAAATCTGACGGCTCGTGCTGAGAGAAAGAAAGAGGAGTGTGCTGCTTGTCACAAGTCACAATTAATCAGTGTTTTCAAACAAATAAAGTTTATTTACAGTTTCAGATATTCAATACACAAGTACTAGCAAAACATTGCATTGAAGGTTTGTTAAATACTGCGGATGTCTATGGAGATGGCAATAATAATTATTTCTAAATATAACTGGACAATGGCCTTTTTTTATGTAACATACACACTGTTTATGTTACTATAACATTTACTCTACTTTTCTCCCAGTTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12840
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 |
---|---|---|---|---|---|
ENSDART00000041094 | Essential Splice Site | 477 | 1011 | 12 | 23 |
ENSDART00000133359 | Essential Splice Site | 411 | 945 | 12 | 23 |
Genomic Location (Zv9):
Chromosome 19 (position 10252798)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 9711337 |
GRCz11 | 19 | 9630262 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCTGACGTCAGCATCTTTGTCATTCTTATCCTCTTTTTGATCATGAAGG[T/C]TGGTTGATTTTAATCTTCATCAGTTGTCTYTAATGTATATATCMTATCTC
Long Flanking Sequence:
ATATATTTGCATCAGCAAATCCATCCGACTGACAATGGTACTAAATGCTGCGTTGTTTACACTTACATGTCAGAAGTTCAGTTTCCCTTTGCGGAATGAGAAAACTTTTCTGCCCAGGAAACTAAATTCAGGAAAACTGAGAGTAAGGCATAACAAAATTTGGGGTGAACTATCTCTTTAATGTACAGACACTAGGTGTATTCACATATAAAACTTCACAGCAAATTTTGTGAACAGTTAGACCCCAAGTGATAATATTGTAAACCACTACACTATTGTCTTGGCATGACTGGATTGTTGAAATACTTACTTTGATTTGGTTTTTGCTTTTATTATCCTGCAGCTGATGCCCAGGGAGTGCATCAACTCTCTGTTTGATAACTTCACCTGGACTAAAATATGGGGATCCCCCCTCCCGCCGGGACTCGGACGCTCTGCTGTGTGGTTTCATCCTGACGTCAGCATCTTTGTCATTCTTATCCTCTTTTTGATCATGAAGG[T/C]TGGTTGATTTTAATCTTCATCAGTTGTCTCTAATGTATATATCATATCTCAAAGTCATGTTGTCATCTTTAAAGGATTAGTTGACCAAAAATCAAAACACCCTTTCATGCATACGATCACACCGGTGTGATTAGATCATTATAACGCACATCACAAATTCAAATCTGACGGCTCGTGCTGAGAGAAAGAAAGAGGAGTGTGCTGCTTGTCACAAGTCACAATTAATCAGTGTTTTCAAACAAATAAAGTTTATTTACAGTTTCAGATATTCAATACACAAGTACTAGCAAAACATTGCATTGAAGGTTTGTTAAATACTGCGGATGTCTATGGAGATGGCAATAATAATTATTTCTAAATATAACTGGACAATGGCCTTTTTTTATGTAACATACACACTGTTTATGTTACTATAACATTTACTCTACTTTTCTCCCAGTTAAATAGACACTTAGTTTCGTATATTTCGGAAGAACATTATGAATAAGCATGTAAATCCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10992
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 |
---|---|---|---|---|---|
ENSDART00000041094 | Essential Splice Site | 747 | 1011 | 18 | 23 |
ENSDART00000133359 | Essential Splice Site | 681 | 945 | 18 | 23 |
ENSDART00000041094 | Essential Splice Site | 747 | 1011 | 18 | 23 |
ENSDART00000133359 | Essential Splice Site | 681 | 945 | 18 | 23 |
Genomic Location (Zv9):
Chromosome 19 (position 10239305)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 9697844 |
GRCz11 | 19 | 9616769 |
KASP Assay ID:
2261-2975.1 (used for ordering genotyping assays)
KASP Sequence:
GTGCCCCCGCCCAAACCTTCAGAACCGTCCACCAATCACACGTCKYCTGG[T/C]GAGAAACGCTCAGACATTACTGAACTGTCCACTTTAAAACCTTAATAAAC
Long Flanking Sequence:
AACACTTTAACCGCTTCAGTATTAGTGTTATTATATTATTAATTACCTCCAGAATTGCCAAAAGCGTCTGTGAACGTCTGACACCTTCAAACACCACCATGCGTTCATTGCATGGCGACATACTGTCTTCTGAGGCGCAAGTCATTTAGTAAATAAAATAAAGATTCACTCAGCTTCACATAGCACAGCAAATTGCATTTGTACTTTGATATTTGCCGCCAGTTAATCAGGTAGTGAGGATTTTGTTCTCTTTGACTACTTAGATGCTTTCATTCGCACGTCTTTTAATGCGATGTTCCAGTTATGCGCATAAATTTAATTCCTACTTTTGATGGAAACATAGCTATTGTCCAACCCCTGTATGTCTGTCCTTCTGTGGGTCCATGTATCCATCTATTTGTCTCTCTTTGTGTTCAGACAATACCAGTTCAAGAAGAGAGAAACGGCCCGGTGCCCCCGCCCAAACCTTCAGAACCGTCCACCAATCACACGTCTCCTGG[T/C]GAGAAACGCTCAGACATTACTGAACTGTCCACTTTAAAACCTTAATAAACCTCAGGCAGGCACTTCTACTGAACAAGCATCTTGAGGCGATAGAAGTGATGCTCATCCTGTAATCCTCCTCCTGCTTTTTTCTTTTCCCCCTCCTATCTCTTCTCCTCTTCTTGCCTAGATAAGGGTCCTTCGCAGTCTTTCAGGAGACTTTTACGTAACTTATTTTCGTCCTCGTCGGAAAGACACACAGAAGGTCAGCCCCAGGTACATTGTTTGTGTTTAAAGGTCTCTTGTGAAAAGAGTGTGTGTGTGTGTATGTGTGTTACATCAAGTGAATTTGAGTGCACTAAATGAATTACTGTCAGCTTGTATGAAACTTTAATGAAAGGCTGAGAAAATGAGAAGAGCAAATACATTGCTAATGGTCTGCATTAAAATTCATCAGTGTTTTTCAAGGACGTGTGCGGTTAAAGGGAAGTGAATGGTCTTCCATTGAACGTGTCAATATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17158
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 |
---|---|---|---|---|---|
ENSDART00000041094 | Essential Splice Site | 747 | 1011 | 18 | 23 |
ENSDART00000133359 | Essential Splice Site | 681 | 945 | 18 | 23 |
ENSDART00000041094 | Essential Splice Site | 747 | 1011 | 18 | 23 |
ENSDART00000133359 | Essential Splice Site | 681 | 945 | 18 | 23 |
Genomic Location (Zv9):
Chromosome 19 (position 10239305)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 9697844 |
GRCz11 | 19 | 9616769 |
KASP Assay ID:
2261-2975.1 (used for ordering genotyping assays)
KASP Sequence:
GTGCCCCCGCCCAAACCTTCAGAACCGTCCAYCAATCACACGTCKYCTGG[T/C]GAGAAACGCTCAGACATTACTGAACTGTCCACTTTAAAACCTTAATAAAC
Long Flanking Sequence:
AACACTTTAACCGCTTCAGTATTAGTGTTATTATATTATTAATTACCTCCAGAATTGCCAAAAGCGTCTGTGAACGTCTGACACCTTCAAACACCACCATGCGTTCATTGCATGGCGACATACTGTCTTCTGAGGCGCAAGTCATTTAGTAAATAAAATAAAGATTCACTCAGCTTCACATAGCACAGCAAATTGCATTTGTACTTTGATATTTGCCGCCAGTTAATCAGGTAGTGAGGATTTTGTTCTCTTTGACTACTTAGATGCTTTCATTCGCACGTCTTTTAATGCGATGTTCCAGTTATGCGCATAAATTTAATTCCTACTTTTGATGGAAACATAGCTATTGTCCAACCCCTGTATGTCTGTCCTTCTGTGGGTCCATGTATCCATCTATTTGTCTCTCTTTGTGTTCAGACAATACCAGTTCAAGAAGAGAGAAACGGCCCGGTGCCCCCGCCCAAACCTTCAGAACCGTCCACCAATCACACGTCTCCTGG[T/C]GAGAAACGCTCAGACATTACTGAACTGTCCACTTTAAAACCTTAATAAACCTCAGGCAGGCACTTCTACTGAACAAGCATCTTGAGGCGATAGAAGTGATGCTCATCCTGTAATCCTCCTCCTGCTTTTTTCTTTTCCCCCTCCTATCTCTTCTCCTCTTCTTGCCTAGATAAGGGTCCTTCGCAGTCTTTCAGGAGACTTTTACGTAACTTATTTTCGTCCTCGTCGGAAAGACACACAGAAGGTCAGCCCCAGGTACATTGTTTGTGTTTAAAGGTCTCTTGTGAAAAGAGTGTGTGTGTGTGTATGTGTGTTACATCAAGTGAATTTGAGTGCACTAAATGAATTACTGTCAGCTTGTATGAAACTTTAATGAAAGGCTGAGAAAATGAGAAGAGCAAATACATTGCTAATGGTCTGCATTAAAATTCATCAGTGTTTTTCAAGGACGTGTGCGGTTAAAGGGAAGTGAATGGTCTTCCATTGAACGTGTCAATATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16717
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 |
---|---|---|---|---|---|
ENSDART00000041094 | Essential Splice Site | 854 | 1011 | 22 | 23 |
ENSDART00000133359 | Essential Splice Site | 788 | 945 | 22 | 23 |
Genomic Location (Zv9):
Chromosome 19 (position 10238147)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 19 | 9696686 |
GRCz11 | 19 | 9615611 |
KASP Assay ID:
2261-2974.1 (used for ordering genotyping assays)
KASP Sequence:
CCTATGTAACCAATACTGGAAAATTWGTGGGAGTCGTGGCRCTGAAAGAG[G/A]TAGGCCATTCAYCCATCCATCCATCCATRKACTCATTCACCTTCCTATCC
Long Flanking Sequence:
TACTGTCAAATGAGATACTTAAGCATGATTTTTTATTAATGTGGGATATTGGTTTTGTTGTATTTTTTTTAGCACTGTGTGGTTTATAAATGCAGACACGCTACTAAAATAAAACAGTATTATAGTATAATTTATAATACGTCAAATAAGGCCTGGTTGTGACATTTGACAGATCAAAGCCTGGGAGGAGAGTGAAATGGACAAACCTCTGGAAATAAACCAGATCAGAATAGATCCATCACCCTTTCAGCTGGTGGAGAGAACCTCACTACATAAGGTGAGAGGTTTGCCAAGTCAAGTCACATATTTTTGTAAAGTATGGAGAGCTTTTTACATGTTGTTTCAAAGCAGCTCTGCATTGAAAATAATATTGTAGAATAAATTAAAGCATCTTTTTTTTTTTTCTCTAACAGACACACACACTTTTTTCTTTACTGGGCCTCAGTCATGCCTATGTAACCAATACTGGAAAATTAGTGGGAGTCGTGGCGCTGAAAGAG[G/A]TAGGCCATTCACCCATCCATCCATCCATATACTCATTCACCTTCCTATCCGTCTATTCACTTTTCCATTTATGCATCCATTCATCCATCCATCCACTCATCCACTCATACATTCATTTTTTCATCTACCCATCCATCCATCTATCCATCCAAGCACTCACTCACCTATAAAATCACCCATCCAACCAGCTACTGATCATTTTACTCACACCATCCATCCATCCATCCATCAACTCACCCTTCCATCAATCAATCCATTCATCAATTCTTTTCTATCAATCAATCCATCCATCCATTCATCAACTCCCTTTTCCACCCATCATCCATCCATCTATGAATTTTCCCCTCCACCCACCCATTAATCCATCTATACTTACATCATTTTACCCTTCCACCCATTCATCCATCCATTAATTAACTCACCTTTCCATGCATCCATCCAACCATTCATCAACACACTTTTCCGTCATTCCATTAATCCATCCATCCATCAACTCACTT
Associated Phenotype:
Not determined