Busch Lab

ZMP

kcnh5a

Ensembl ID:
ENSDARG00000043220
ZFIN ID:
ZDB-GENE-061106-2
Description:
potassium voltage-gated channel subfamily H member 5 [Source:RefSeq peptide;Acc:NP_001038263]
Human Orthologue:
KCNH5
Human Description:
potassium voltage-gated channel, subfamily H (eag-related), member 5 [Source:HGNC Symbol;Acc:6254]
Mouse Orthologue:
Kcnh5
Mouse Description:
potassium voltage-gated channel, subfamily H (eag-related), member 5 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa23671 Nonsense Available for shipment Available now
sa10289 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa23671
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029689 Nonsense 173 1001 5 12
ENSDART00000103532 Nonsense 173 1093 5 12
ENSDART00000131859 Nonsense 172 1000 5 12
Genomic Location (Zv9):
Chromosome 20 (position 20188591)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20216758
GRCz11 20 20116431
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACCAACAGCCGAGGTACGGTTCAGCAGCTCACCCCCATGAACAAGACT[G/T]AAGTCAGTCACAAGCATTCACGACTGGCAGAGGTGAGTGTCATATACTGT
Long Flanking Sequence:
CCCTGTTCTTCAGCTTTCATGTCTCCACCAAACCATAATGCTTTCATTTTAAAATCATAAAGAAATATTATGCCTTTGTGAAGAGCCCCCAAGGGTTCATAACACTCTCTGTTCTTACAAAGTGAATAGAGGAGGAAAGAGTTACAACACACTGTTGGCAAAAACATTAGAAATGGGACATCGGTACACAAAACATGATCTTTTTTGGAAGGAAGAACAATTTTCACTAACATCAGCAGTTGAAGGATCCTCAGTGGAAATCACTCTGGGCCGTTGCCTTCAGCTGAGGAGTGTGATGCTAGCTGTACTTCTAGTTGTGTGGAACAGTGTGTTTGAGACTGCATTAAACAGGACCAAAGGTAGAAAAATGACAAAAAAGTCTTCATAGTTGCTGACACACCATTTTTGTGGTTGCAGGATGGACCAAGTTTGCCAGGCTGACCAGGGCATTAACCAACAGCCGAGGTACGGTTCAGCAGCTCACCCCCATGAACAAGACT[G/T]AAGTCAGTCACAAGCATTCACGACTGGCAGAGGTGAGTGTCATATACTGTACATTTTTTTCATCCTTGTTGAGCCTTTCCATTGACTTTCATACTAAAGCCATTTCTACACGTACACAGGAATTTTTATAAACTGGGTTTTCCCTTTTTTCAATAATAAGAATTATTAATGACTATAATACTTAATTATAATAATTAGGTATTACTTATTAATGCAAATGTGAGAAAAAAGGCAGATTAAATGTTATGGATTTGCTTGATTGTCATCTTCTGCATTGGGTGTGAACCAAGCGGCAACTTCCCACTCTCCCTCATGAAGCCAATATGGATTTAACTGAAACTGCAATTCATCCGCTCGCCTTTGGGGGGTGGCTCCAGGAAATCCAGATGTCCACTGCATGCAATGCTAAACTGGCTAATGTTAAAGCTGATAACAACGTCTTTACAGTCTGGTACAAAAGATCCTTTTGGTGTAAATAGCTAATATTAACTTTCATGACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10289
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029689 Essential Splice Site 524 1001 8 12
ENSDART00000103532 Essential Splice Site 555 1093 9 12
ENSDART00000131859 Essential Splice Site 523 1000 8 12
Genomic Location (Zv9):
Chromosome 20 (position 20099156)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20127323
GRCz11 20 20026996
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTACATCGTGTCCACGTGGGCCATGACTAAAGGCATAGACACAGARAAGG[T/C]GTGTGAATCTTCAACTCTTCCTTTTATTGGTGTACCTTACTCGTATACCA
Long Flanking Sequence:
ATAATAATATGTTCATGGATACTGTCGCTGAATAAAATAAGTGTTTAGTTAGAATAAAATAAGTGTTTAATCAGATAAATATGGTCTATAACTGGAATTTAACTGTGAAAGTCCAGAATTCTCCTGTTGTATGTTTCCTCCACTAGCATCAATGAGAAACTCTCTTCAGCCAGCGATTCACCATCATTTCTCTTCAAATACTTCTAGACACTCTCGTCTCCGTCTAGCCTTTGATTTATATAAATAGTAGCTTTCAGTGGTACTCTAGAGTTGATTCTCCCCTTTCTGTTGATTTGCAGCTCTTCTGTACGCAACCATCTTTGGAAACGTGACCACCATCTTTCAGCAGATGTACACCAACACCAACCGCTACCATGAGATGCTGAACAACGTGAGAGACTTTCTGAAGCTCTATCAGGTGCCTAAAGGGCTGAGCGAGAGGGTTATGGACTACATCGTGTCCACGTGGGCCATGACTAAAGGCATAGACACAGAGAAGG[T/C]GTGTGAATCTTCAACTCTTCCTTTTATTGGTGTACCTTACTCGTATACCATAGCGAACAAAATGTATAGGATACTACAATGTTGTTGAAGTAACAGGTAAGCACATGTTCTAAAACGCTTCAATAGTTTTAGGAAACATTGTACAACTTGTTAGAGTTTTGTCAACACAGGTATATTTTAAAAATCATAAATATATCTAAAATATTATATTGAGGTGGTGTTTAGAAAGAAAATAGAAAGTCAATTTCCTGCTAACATTTGATTGGACATTTTTTTTATCAGCTAAACAAATATTACTGTAATTCACCATAAAGGTCATCAGTTTACCGCTCTTTTCTGCTATGAGCAAACACATTTATATGGAGCATTTTAAAGCTGCGTCAATCAGCTGATCTGTCTGCAAGCTGAGATATGAGTGATCCGCTGATGGATTGACTGATTGGCATAGCTTTGAAACACTCATATCATCTGAGCACATGAACAACAATCAGCTGTGAATG
Associated Phenotype:
Not determined