LOC567442

Ensembl ID:
ENSDARG00000061990
Human Orthologue:
KCNH4
Human Description:
potassium voltage-gated channel, subfamily H (eag-related), member 4 [Source:HGNC Symbol;Acc:6253]
Mouse Orthologue:
Kcnh4
Mouse Description:
potassium voltage-gated channel, subfamily H (eag-related), member 4 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3816 Essential Splice Site Mutation detected in F1 DNA During 2014
sa22053 Essential Splice Site Mutation detected in F1 DNA During 2014
sa9678 Nonsense Available for shipment Available now
sa10935 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa3816
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089042 Essential Splice Site 190 1193 4 17
Genomic Location:
Chromosome 12 (position 14524486)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AACCAGCCAGTTTACACGTGACAGCAAAAATGACGTCAAATTAAGYCGGG[T/G]GAGTAGTGGAAACATTTATGAACTACTTACTAAAAGGAAACATTGTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22053
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089042 Essential Splice Site 271 1193 6 17
Genomic Location:
Chromosome 12 (position 14539888)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTGTTTGAGCAGACTTGTGCAGCAAAGTCATTATCCTACCTTTTACTTTC[A/T]GACATCATTCTTAACTTTCGCACCACCTATGTGAGTCAATCAGGACAAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9678
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089042 Nonsense 482 1193 9 17
Genomic Location:
Chromosome 12 (position 14545543)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAATGTAACAGCTATTATCCAGCGCATGTACTCACGTCGCTCACTATA[T/A]CATACACGCATGAAAGATCTAAAGGACTTCATTCGRGTTCACCGGCTGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10935
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
ENSDART00000089042 Nonsense 748 1193 12 17
Genomic Location:
Chromosome 12 (position 14567551)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATCATTAGGGAACCTTTTAGGAGAGGAGTTAATGCAATTCAATGCCCTA[C/T]GACATTGTCGCTCACCCGTCAGGGGCTGGAGTCCAAATCCCKCTCCAAAA
Associated Phenotype:
Not determined

Register

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