Busch Lab

ZMP

LOC568733

Ensembl ID:
ENSDARG00000023236
Human Orthologue:
KCNH1
Human Description:
potassium voltage-gated channel, subfamily H (eag-related), member 1 [Source:HGNC Symbol;Acc:6250]
Mouse Orthologue:
Kcnh1
Mouse Description:
potassium voltage-gated channel, subfamily H (eag-related), member 1 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa24223 Essential Splice Site Available for shipment Available now
sa13182 Nonsense Available for shipment Available now
sa24224 Nonsense Available for shipment Available now
sa17935 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa24223
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032246 Essential Splice Site 68 958 2 11
Genomic Location (Zv9):
Chromosome 22 (position 40868518)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 37953975
GRCz11 22 37907703
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCCGGTTACCATCGTGCTGAAGTCATGCAGAAGAGCAGCACATGCAGG[T/C]GATTTCATGTTTCTGTTATTAATCATGTGACTGTATCCAATAGGGTTTCC
Long Flanking Sequence:
AAATGTACTGTTTATTGTTAATGGTATGTAACGGGTGTTTCACAGATGTTTCAGATTGAAATGTTTGTTTATTTAAGTGTTAAGATGTGCTCACATTTACCAAAAAGGCAAAAACACTCAAAACTGTTCAGCTGTAATGACAATTCATGACTGATTTTCTTGCACAGCTGCTCGGTGTGAAAGATATCATTCTGTAAACAATCATTACTCTTGGAATTACGGATAAAACACCATGTAATTTTTGTAAAATGTTGCTTCTGTGAGTGCGCTTTAAGACAAATGTTTGTTTCAGAAACATCTTGAGACCCCCTGTGTAAATAGCTGGCACAATGTCAAGTGGAAAAATTTAAAATGTTGCTCCTCGCTTCCTGGCAGACACCAATTTTGTTTTGGGGAACGCCCAGATTGTGGACTGGCCGATCGTCTACAGTAATGACGGATTCTGCAAGCTGTCCGGTTACCATCGTGCTGAAGTCATGCAGAAGAGCAGCACATGCAGG[T/C]GATTTCATGTTTCTGTTATTAATCATGTGACTGTATCCAATAGGGTTTCCTCCGGGTGCTCGGGTTTTCCCCACAAGTCCAAAAACATGCGCTATAAGTGAATTGAATAAGTGTGTGAATGAGTGTGTATGTTGGGCACGACCAATTCTCCTCTGGCCAAACGTCTTGTGCAGAGCTGCAGTCTAGGCGCCGGAGACTGGAAGCTGGACCTCAGCGAAGACTCGTCTCTCCCTGGAGAGTCATAGAAATCAGTCTCATGCTCTCCACTTCTCCATGAACACCACAGCAGCTGCTTAGGATACGGCCTGGTCCAGGATTATGGAAACTTTGGGATCATCTTATTGCTGGTCTTGGATGGAATCAGTGGCGCTGCATAGTCTGAGGGCCGTGGGATGAGTATCCACAGGTGGAAATAGAGAATGAAGAGAATAATTAGCATAGCTGCTGTTCATACTGTATTTAAACGAGATGCAGAAACCTGCGTGGAGCACATTCATGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13182
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032246 Nonsense 237 958 6 11
Genomic Location (Zv9):
Chromosome 22 (position 40876464)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 37961921
GRCz11 22 37915481
KASP Assay ID:
2261-7123.1 (used for ordering genotyping assays)
KASP Sequence:
GACTGGGTGATCCTCATCCTCACCTTCTACACCGCCATCATGGTGCCCTA[C/A]AACGTGTCCTTTAAGACCAAGCAGAACAACGTCAMCTGGCTGGTGGTKGA
Long Flanking Sequence:
CTATTCTGCCGCCCTAGACGCGGATATAGCGTTTTTTAAAGCCTAATAACAAAACAAACAAATAAAAGTTTAGATTTAAATTTGAAATGACCATCCCCATCTAAACCATCCCCATCAGTCTCCCTCTCTTCTCAGATGGGATGGTGGGCCAAATCAAAGGTTACCATGGGCATCTCTGAAATAGAGCTAGTCAGACTATCTTGTGAGACTGTGTTTATGTTGCAGAAAAATAAAACATTACAATCCTTTTTTTCAATATCGTGCAGCTTTAGTAGATTCCATCATAAACGGTAAAAAAGATTGGCCCAAGAATGCTCAAAATAATATCAATCTGATCTGATCTGCCAGGTGTTGCAGCTGGGATCAGACATTCTCCCGCAGTACAAGCAAGAGGCTCCCAAAACGCCTCCGCACATCATCCTGCACTACTGCACCTTCAAGACCACCTGGGACTGGGTGATCCTCATCCTCACCTTCTACACCGCCATCATGGTGCCCTA[C/A]AACGTGTCCTTTAAGACCAAGCAGAACAACGTCACCTGGCTGGTGGTGGACAGCATTGTGGATGTGATTTTCCTGGTGGACATTGTGCTCAACTTCCACACCACCTTTGTTGGGCCGGCGGGAGAGGTGATCTCAGACCCCAAACTGATCCGTATGAACTACGTCAAGACCTGGTTCGTGATCGACCTGCTGTCCTGCCTGCCGTACGACGTCATTAACGCCTTCGAGAATGTTGACGAGGTGAGATTTCTACAATTCTTTTTTCTCTGTCAAAGATTTCCCCCATGATGTTGAACAGATTCAGGATTTATTCACAGTATTAACTATAATGTTTTTTCTTCTGGAGAAAGTCCTATTTGTTTTATTTCGGCTACAACAAAAGCAGCTAGCTGGCAGCTAGCTCTCTGCAACTCTCACATGGTCGCCCACTGAAGCTAAGCAGGGCTGCGCCCGGTCAGTACCTGGATGGGAGACCACTAGGGAAAGCTAGGTTACTGCCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24224
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032246 Nonsense 393 958 7 11
Genomic Location (Zv9):
Chromosome 22 (position 40883814)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 37969271
GRCz11 22 37922811
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGTTATCGATCAAGACGCCAACATGGTGCGCACTGACAGCTGGCTGTA[T/A]CTGCTGGGCGAAGCTGTGGGTCAGCCCTATCACTTCAACGCCAGCGGCTC
Long Flanking Sequence:
AGGTAGAACATGCAAACTCCACACAGAAACGCCAACTGAGCCGAGGCTCGAACCCAGCGACCTTCTTGCTGTGAGGCGACAGCACTACGTAATTAGTGTGCACTACCTACCTAAATGTGAAGAGGGGCCTCACAATATTTTCCAATGGGGAAAAGGGCGTCACAGGCAAAAAAGAGTTTGGGAACCATCTTATCATGACTGAATGTGTAGGCGAACTCAGAAGGTTAGTTTTGACTTCATGTGTACTTTAATCTCCTTCTGCTCCTCTTGCAGGGCATCAGCAGTCTGTTCAGCTCTCTGAAGGTGGTCCGGTTGCTGCGTCTCGGCCGTGTGGCCCGTAAACTGGACCACTACATTGAATACGGCGCAGCAGTGCTGGTTTTACTGGTGTGTGTGTTTGGTCTGGCCGCTCACTGGCTGGCCTGCATCTGGTACAGCATCGGAGACTATGAGGTTATCGATCAAGACGCCAACATGGTGCGCACTGACAGCTGGCTGTA[T/A]CTGCTGGGCGAAGCTGTGGGTCAGCCCTATCACTTCAACGCCAGCGGCTCAGGGAAGTGGGAAGGGGGTCCCAGCAAGGATTCGGTCTACATCACGTCTCTGTATTTCACCATGACCAGCCTGACCAGCATTGGATTTGGGAACATCGCTCCCACCACCGACGGGGAGAAGATCTTCGCCGTGGCCATGATGATGATCGGATGTGAGTACAACTATATTTAACGTAGATTCAAAACTCACCCAAATATCATTAGAATATTAATTCGAGATCATGTGAAGATTTACTATGGGAAATATAAGTATTGTACACGTCACCATTTATCTTAGAAAACATATTTTGTTGACTTGAAATTGTCACCGCATGTTGGTAACAACTAAAGAAATCCATATCTGCAAATACAGTTAAAGTCAGAATTATTAGCCCCCCTGAATTATAAGCGCCCCTGTTTATTTATTTCACCAATTCCTGTTTAATGGAGGGAAGATTGTTTCAGCACATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17935
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032246 Essential Splice Site 612 958 9 11
Genomic Location (Zv9):
Chromosome 22 (position 40897292)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 37982749
GRCz11 22 37935722
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCGGGGTCTTTGGAGGTCATCCAGGATGAWGAAGTTGTTGCAATTTTGGG[T/A]AAGTATGATTATACCAGTGCTCTTCGGTCTACTGYTACTTAGAGYTGCAC
Long Flanking Sequence:
TTATAAATAGACTGCATAGTTGCAATCTAAACAACTACATTCTCCACTAAATTAGCCTCAAAAGTACATTATGTTGTCTAACAGCAGGAGTATTTGTCAAACTGTAGAGCGTCCTCTGTATGTGGGCGGAGTAAAGCACAAAGGTGAAGGGTGAAATATCTCACGGCTATCAGCCAATCAGATTCAAGAACCAGACAGAGCAGTTGTATAAATATACATAATGCCCTCTTCATTGCTCTTTTGCAGGTTTTGCAAATCTGCCCCAAAGACATGCGAGCCGACATCTGCGTTCATCTCAACAGGAAGGTGTTCAAAGAGCACCCTGCGTTTCGCCTGGCCAGCGACGGCTGTTTAAGAGCTCTCGCTATGGAGTTTCAGACCATCCACAGCGCGCCGGGAGACCTCATATACCACGCGGGCGAGAGTGTGGACAGCCTCTGCTTTGTGGTGTCGGGGTCTTTGGAGGTCATCCAGGATGATGAAGTTGTTGCAATTTTGGG[T/A]AAGTATGATTATACCAGTGCTCTTCGGTCTACTGCTACTTAGAGCTGCACAATTAAGCGTTAAAAAAAAACGCGATCTCGATTCGAGCCCCTAGACGATCTTAATCCAGCATTTGTACGATTCTGTCAATCATATTTTCAAGTTCAGGAGAGAAGAAAAGGCGGCTGCACGAGTCTTTTCAGTGTTTCACACACGTTGCTCAGTGACATTGACACCTCCAAATGATGTTGAATGAGACACACACTGTATTTATAAGGTATAATTCCCCTAAAAATGCAATTTTTGTCTTCATATAATGATGTTTTCACGATCGGGAAATCACACGTGACGTGAACTGCTGACCACGCGCGTCTACTTTAGTGAACAGAACCTGCATATGTTACAAGTAATACAGTTGTAAATAATATTCAGTTTGTGGCACAGAGTGATCGTTTGGGAGCCGCGCGCGAAGTATAAACAAGCACTTAGCAGTCAAAATGGGAATGACTATGGGATGAGGG
Associated Phenotype:
Not determined