kcnh6

Ensembl ID:
ENSDARG00000001803
ZFIN ID:
ZDB-GENE-040702-5
Description:
potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:RefSeq peptide;Acc:NP_
Human Orthologue:
KCNH6
Human Description:
potassium voltage-gated channel, subfamily H (eag-related), member 6 [Source:HGNC Symbol;Acc:18862]
Mouse Orthologue:
Kcnh6
Mouse Description:
potassium voltage-gated channel, subfamily H (eag-related), member 6 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8126 Nonsense Mutation detected in F1 DNA During 2014
sa17340 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa8126
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090809 Nonsense 695 1186 10 16
ENSDART00000134201 Nonsense 695 772 10 10
Genomic Location:
Chromosome 3 (position 31876152)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAAWATATATATACTTTGTGCTGCAGGTGCTGAAGGGTTTTCCAGAGTG[T/A]CTACAGGCTGACATCTGTCTTCATCTGAACCGCAGTCTGCTTCAAAACTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17340
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090809 Nonsense 1105 1186 16 16
ENSDART00000134201 None None 772 None 10
Genomic Location:
Chromosome 3 (position 31867024)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTGTAATGATCAGCCGTGTTTTCCACAGAGTCCTGAYGTGGACAGCTKG[A/T]AAGAGAAGTCTCCWGACTCTCTGTCCAGCGGGATTCATCTGACGGTGGCT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/rhkg0azm