ZMP
ENSDARG00000088397
Ensembl ID:
Human Orthologue:
KCNQ1
Human Description:
potassium voltage-gated channel, KQT-like subfamily, member 1 [Source:HGNC Symbol;Acc:6294]
Mouse Orthologue:
Kcnq1
Mouse Description:
potassium voltage-gated channel, subfamily Q, member 1 Gene [Source:MGI Symbol;Acc:MGI:108083]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37979 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa24586 | Nonsense | Available for shipment | Available now |
sa10719 | Nonsense | Available for shipment | Available now |
sa6787 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37979
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000126521 | Essential Splice Site | 28 | 211 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 25 (position 2340533)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 2299526 |
GRCz11 | 25 | 2389832 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATTGAACAGTATGCAGACTTCGCCACAGGATCTCTGTTCTGGATGG[T/C]GAGGCCAAAAAACAATTGCTCAAATTGGAAAATCCATCCATCAACATCCA
Long Flanking Sequence:
AAGAACCAGAAAGAACTGTTTTATAAATAAATAAATGAATAAATATGTATATATATATGTATATATGTGTATATATGTGTATATATATATTCTAAATAAAATTTAGATCTAAAATTGATTTGTCAGTGGAAAAGCCATAAGCCATAAGTCATTTCCACTGACAAATCAATTGTACATTTTTAAAACTGATATACTTGCTGAATATGTTGTTGAGTTTGAGTTACTGAATATGTGGCGAAATGTTGAGTTCGCCGCCGGTATACTGACACGTAAGTTGTCATTTTATTTGCTTTTGCGAGCTGCGAAGATTTGTGAGCAAGAATTATAATGTCAGATCTGCAGTGAATAGTTTGAAATGAATAATCAGGAAGAGCTGCAGTGATGCAATGTCCGGTTTGTCCTCCACAGGTTCCTGATGGTCCTGGTGTGTCTGATCTTCAGTGTGTTGTCCACCATTGAACAGTATGCAGACTTCGCCACAGGATCTCTGTTCTGGATGG[T/C]GAGGCCAAAAAACAATTGCTCAAATTGGAAAATCCATCCATCAACATCCATCCATTCTGTCTGTCTGTCTGTCTATCTCATCCGTCATGTCTGTTTATCTATCTATCTGTCTATCTGTCTATAATTAGCCAATTACACTGCAGCATATTAATATTATTATTATTATTATTATTATTATTATCATTATTAATATCATTGTTATTATTATTATTTTTTTAATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATCATTATTAATATCATTGTTATTATTATTATTATTATTAATATTATTATTATTATTATATAAAATTAATTTAAATGTTTGTGTATTCAGAAATGTACTGTTTATTTGTTTTGCACTAGGTGCAAACTTATAACAAGAAACTCACGTTTTTCTTTAGAAAACAAATAATAAGAAGAAAATAATAAAGTTTTTATTCTATTTTATGTTACCCTTGCTGAAAAGAAAAGTATAGATTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24586
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 |
---|---|---|---|---|---|
ENSDART00000126521 | Nonsense | 45 | 211 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 25 (position 2338138)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 2301921 |
GRCz11 | 25 | 2393546 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGATTGTGCTGGTGGTGTTTTTCGGGACTGAGTATGTGGTGCGGCTCTG[G/A]TCTGCAGGCTGCCGGAGCAAATATGTGGGCATTAAAGGCCGTCTGCGCTT
Long Flanking Sequence:
GCTTTATAACTACTAATGAACATAATATCTTTATCAATCCAGTAGATACTGAAGTGTTACTGAAATGTAGTACTGCATAATGTATTGTTTCAGCACTGAAATCGCTATGTGCACATTTGTTATAGTCACATTGCATTATTTTGCTTGTTTTAAGAAAAATCCCAATAAATTTTTATATATTTGGACTAGAAACGAGACAAAAAACGTAAGAAAGAAAAGCATTGTTTGCATTGTGAGTATTCAGTTTCTGTTCCTGAATACTGTTAGACTTGGAAAGACGTTTAATGGAGCTATTCAAACCGTCGGGTGAAACTGTATTTATATTTCATTGTATATTGCAGAAAAATAAAATATCCCAAGAACGCATCAGGTTTTTCCAATATTGTGCAGTCCTAGTGAAATCTGTCTTTTTCTAGCCTTGAATATGGGTTGTGTTTGTCCTCTGTACAGGAGATTGTGCTGGTGGTGTTTTTCGGGACTGAGTATGTGGTGCGGCTCTG[G/A]TCTGCAGGCTGCCGGAGCAAATATGTGGGCATTAAAGGCCGTCTGCGCTTCATCAGGAAACCCATCTCCATTATAGGTGCTTATTGATTATAGGCTGCATGTTCATTTCTCAGCAAAAATAACATGTGGAGCAGAATGCAGTATTGGTGTCATGTGATGCGACATTACATTCAATTCTGGATATAAAGCCAACATTTGTATTTGGAATCTGGTTCTCTAATAAATCCAAAAATTGATTTGGAAAAGTGTTATGTTAAATAAGGTTCATTTCTAACGCTGGGACTTTTTTCTTAAGTTTTTTTTTTTTATTTTGTAAAAAAATATTTTTTTTTAAATTTGTTATTATTTAAAAAAATATATTTTTTACTTTTTATATTTATATAGATTAATTTATTCATTCATTTATTTTAATTTATTTTGCTTCATTTTAAAAAAAGTTTATTTTGTTTATTTATTATTATTTTTTGTTTCATTTAATTTTTTATTTCATTTTTTTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10719
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 |
---|---|---|---|---|---|
ENSDART00000126521 | Nonsense | 153 | 211 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 25 (position 2331477)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 2308582 |
GRCz11 | 25 | 2400204 |
KASP Assay ID:
2261-9233.1 (used for ordering genotyping assays)
KASP Sequence:
ACAWCGGGTTCCKKGGTCTGATCTTCTCATCGTATTTTGTGTATTTGGCT[G/T]AAAAAGATGCAGTAGATGAAGAAGGGAAGACAGGTTTCTCCAGCTATGCT
Long Flanking Sequence:
ACCATAAAATAGATTTTAAAAATTGTGGCTCGTTGCATTTTAAAACAAGATCATACACTGTTAAAAAAACTAAATTAATATAAGCCATAATAACATCTGCTGTGTGTTTTTAAAAGAAAATACAAAGCAAAAACTTATATAAATTATATAAAAAACTTATATATATATATATTCTTTAATTTACATTAAATATAAGCAATATTAACATCCGTGGTGTGTGTTTTGAATGAAATATTAATAGAATTGAAAGTATAATTTTAATTAAAAGGACATAAAACAATCTACCTGACTTAAATGTTCATTTCTAGTCATCCTAACTTACATTAATCAGACTTAATAAATTCAACTTTGTATGACTTTGTATTACTGTATATATCTAATGGAAACGAATGTTAATCTGTTTATTTCTGAACTGTTTTCCTACATTTCAGGAGCTGATCACCACACTGTACATCGGGTTCCTGGGTCTGATCTTCTCATCGTATTTTGTGTATTTGGCT[G/T]AAAAAGATGCAGTAGATGAAGAAGGGAAGACAGGTTTCTCCAGCTATGCTGATGCTCTGTGGTGGGGCGTGGTGAGTTTATTCTCCTAAAATAATAAAAAACATTGATTGTTGGAGTTTTATGTATAAAAGAACATCTTGCTGGCTGGTTAATGGGAGAGTATACTGCAAAAATACAATTCTGACATTGTTTACTCATCCTTTATTTCATTTGATTGAACACAAAAGAAGATATTTTGAAAAATGTTGGAAACCGCTAACCATTCACTTCTTTAGTTGGAAAAACAAATGCTATGAAAGTCCATAGTTTTCATTATTCTTCAAAATATCTTCTTTTGTAGAAACAAACTCATAAAGGTTTGAAATGAGTAAAGAATGGGTAGAGAGGAGATTTTGAGAAATGTGGAAAACTAGTAACCATTCAATTTCATAGTAGGAAAAACAAATACTATGAAAGTCAATGGTTACCGGTTTTCCACATTTTTCAAAATATCTTCTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6787
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000126521 | Essential Splice Site | 176 | 211 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 25 (position 2331404)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 2308655 |
GRCz11 | 25 | 2400277 |
KASP Assay ID:
554-5318.1 (used for ordering genotyping assays)
KASP Sequence:
AGGGAAGACAGGTTTCTCCAGCTATGCTGATGCTCTGTGGTGGGGCGTGG[T/C]GAGTTTATTCTCCTAAAATAATAAAAAACATTGATTGTTGGAGTTTTATG
Long Flanking Sequence:
ATTAATATAAGCCATAATAACATCTGCTGTGTGTTTTTAAAAGAAAATACAAAGCAAAAACTTATATAAATTATATAAAAAACTTATATATATATATATTCTTTAATTTACATTAAATATAAGCAATATTAACATCCGTGGTGTGTGTTTTGAATGAAATATTAATAGAATTGAAAGTATAATTTTAATTAAAAGGACATAAAACAATCTACCTGACTTAAATGTTCATTTCTAGTCATCCTAACTTACATTAATCAGACTTAATAAATTCAACTTTGTATGACTTTGTATTACTGTATATATCTAATGGAAACGAATGTTAATCTGTTTATTTCTGAACTGTTTTCCTACATTTCAGGAGCTGATCACCACACTGTACATCGGGTTCCTGGGTCTGATCTTCTCATCGTATTTTGTGTATTTGGCTGAAAAAGATGCAGTAGATGAAGAAGGGAAGACAGGTTTCTCCAGCTATGCTGATGCTCTGTGGTGGGGCGTGG[T/C]GAGTTTATTCTCCTAAAATAATAAAAAACATTGATTGTTGGAGTTTTATGTATAAAAGAACATCTTGCTGGCTGGTTAATGGGAGAGTATACTGCAAAAATACAATTCTGACATTGTTTACTCATCCTTTATTTCATTTGATTGAACACAAAAGAAGATATTTTGAAAAATGTTGGAAACCGCTAACCATTCACTTCTTTAGTTGGAAAAACAAATGCTATGAAAGTCCATAGTTTTCATTATTCTTCAAAATATCTTCTTTTGTAGAAACAAACTCATAAAGGTTTGAAATGAGTAAAGAATGGGTAGAGAGGAGATTTTGAGAAATGTGGAAAACTAGTAACCATTCAATTTCATAGTAGGAAAAACAAATACTATGAAAGTCAATGGTTACCGGTTTTCCACATTTTTCAAAATATCTTCTTTTGTGTTAAACAGTGGAAACAAAAGCATAAAGGTTTGAAATGAGTAAAGGATGAGTAGAGAACATATTTTGAAAA
Associated Phenotype:
Not determined