kcnh2

Ensembl ID:
ENSDARG00000029881
ZFIN ID:
ZDB-GENE-070912-699
Description:
microtubule-associated protein 4 [Source:RefSeq peptide;Acc:NP_001036187]
Human Orthologue:
KCNH2
Human Description:
potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:HGNC Symbol;Acc:6251]
Mouse Orthologue:
Kcnh2
Mouse Description:
potassium voltage-gated channel, subfamily H (eag-related), member 2 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa31277 Essential Splice Site Mutation detected in F1 DNA During 2016
sa38329 Essential Splice Site Mutation detected in F1 DNA During 2016
sa14572 Nonsense Available for shipment Available now
sa19755 Nonsense Available for shipment Available now
sa32915 Nonsense Mutation detected in F1 DNA During 2016
sa19754 Nonsense Mutation detected in F1 DNA During 2016
sa32914 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa31277
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Essential Splice Site 26 1253 1 15
Genomic Location (Zv9):
Chromosome 2 (position 23783019)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24425476
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCAGAACACCTTTCTGGACACCATCATTCGCAAATTCGAGGGTCAAAG[T/A]AAGTGAATGACTTTTATTTTAGTGAACGTGCATTGATTATGTTTTTAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38329
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Essential Splice Site 103 1253 3 15
Genomic Location (Zv9):
Chromosome 2 (position 23762905)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24445590
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGAATGTGTGACCGTTATTTTGAGAGATTTTTTTTCTCTCTTCACGCA[G/T]GTGTGTGTTTGCCTTGCCTTGTGGACGTGGTTCCTGTTAAGAACGAGGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14572
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Nonsense 161 1253 4 15
Genomic Location (Zv9):
Chromosome 2 (position 23758856)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24449639
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCTARYACAATACATTTATTTCTTACCCTTGGGTATTTCCTCAGCAAGA[C/T]GACGTCGTCTCCGGCTGCCACTGCCCTTGCTGCACTCTCTGAGTGGCAGK
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19755
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Nonsense 267 1253 4 15
Genomic Location (Zv9):
Chromosome 2 (position 23758536)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24449959
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCCTCCCCACGTCTGCACAACCTCACCTCAGAGGCGTCTCCGTCCAGTTG[C/A]AGCATGGCCCACAGCCGCTCCTGTGAGAGCCTGTGTGGCATGAGGCCCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32915
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Nonsense 598 1253 7 15
Genomic Location (Zv9):
Chromosome 2 (position 23706458)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24502037
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTCGAATCGGTTGGCTTAATTCTTTGGGTGATCAGCTGGGAAAGCCATA[T/G]AATTCATCAGTACGTGGATCAGGACCCTCTATTAAAGATAAATATGTCAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19754
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Nonsense 1229 1253 15 15
Genomic Location (Zv9):
Chromosome 2 (position 23695967)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24512528
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CACAAGCTGTACAGAGTTTACATTTGGAGACCTCTGAGTGTTCAAGACGC[C/T]AATCGCTGCCAGTAAAACATCAGGTCGAAGATGATTGCTCAATGCAGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32914
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024058 Nonsense 1238 1253 15 15
Genomic Location (Zv9):
Chromosome 2 (position 23695940)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 24512555
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGACCTCTGAGTGTTCAAGACGCCAATCGCTGCCAGTAAAACATCAGGTC[G/T]AAGATGATTGCTCAATGCAGAAAAGACATCCCTCTGATCCTGGCTCTTAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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