ZMP
LOC567442
Ensembl ID:
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 |
---|---|---|---|
sa22053 | Essential Splice Site | Available for shipment | Available now |
sa9678 | Nonsense | Available for shipment | Available now |
sa10935 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22053
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089042 | Essential Splice Site | 271 | 1193 | 6 | 17 |
Genomic Location (Zv9):
Chromosome 12 (position 14539888)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 13395541 |
GRCz11 | 12 | 13433844 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTTTGAGCAGACTTGTGCAGCAAAGTCATTATCCTACCTTTTACTTTC[A/T]GACATCATTCTTAACTTTCGCACCACCTATGTGAGTCAATCAGGACAAGT
Long Flanking Sequence:
TTGAAGAATGGCCCATCAATTCTGTTTTCACTGCACCATGTCTTTATATTCTATATTGTACAATATTTCTGTAAGTGACTCGATTTTTGTATAAGCAAGGTCGGACTGTCCTAATTAAAAATCAAGGCATGATCATACTTTGTTTTTGTAAAATAAGCATGGAGGCCTTTCTATATAAGCCACTTCTAAAACCAAATTATCATCTAGAAGTCAAGTTTTAATTTGTTATTCCTAAAACTTGGATAGGCCACAAGACTTTTATCAGGTAGTGTAAATTGTAAACATATTTTAACTGTCACTTTAGAACAAGTGTATGTGTCCTTGCTAATGTATTGATGTATTTATTAATTGACCTTTTTAATGTACCCAAGACAATTTTCTGATTGGAAGTGTATATAAAAACACAAAGCAGCAAAATAGTTTTCTCAGCTTTGATAAAAGCAAGAAATGTTGTTTGAGCAGACTTGTGCAGCAAAGTCATTATCCTACCTTTTACTTTC[A/T]GACATCATTCTTAACTTTCGCACCACCTATGTGAGTCAATCAGGACAAGTGGTGTACGAGCCTCGCTCCATCTGTCTGCATTATGCTACCACATGGTTCTTTGTGGATCTGGTGGCTGCCCTGCCCTTTGACCTGCTCTATGCATTTAATATTACTGTTGTAAGTTCACGTGTGAAAACTTTGTTTATTCCTTAAATATATGGTAGAACCATCATAACTGTGATGGTGCTGTATCATCATCTACACTTTGATATTTCCCATCACATAGAACATTTAGCATGTTTATTCATACATTTTATTTGAAACATATTCAAACAGATTACTTATATAGACTACTGACATCAAACATTTTTGTTCTTCTTCAAGACATCTCTAGTGCACCTGCTGAAAACTGTGCGATTGTTGCGTCTGTTGAGACTCCTGCAGAAGTTGGATAGATACTCACAGTACAGCGCCATGGTGCTGACGCTGCTTATGTCCATGTTTGCTCTTCTGGCTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9678
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089042 | Nonsense | 482 | 1193 | 9 | 17 |
Genomic Location (Zv9):
Chromosome 12 (position 14545543)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 13401196 |
GRCz11 | 12 | 13439499 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGAAATGTAACAGCTATTATCCAGCGCATGTACTCACGTCGCTCACTATA[T/A]CATACACGCATGAAAGATCTAAAGGACTTCATTCGRGTTCACCGGCTGCC
Long Flanking Sequence:
CTTGGCTAGTTAACCTAGTTAATACTTTAAATTGCACTTTAAGCTAAATAATAATAAAATTAATACTAAGCAAAATAACTATTAAAATGGCAAAAGATTTTTTTTTAATTTAAAGACATTTAAAGTATTATATTTAAAAATGTGTTGAAAAAATCTCTCTGCTAAACATCACCTTTTTTTTTGCTCAGGAGGGCTATTAATTTTGCTTTAACTTGTGCATGTTCTGACATTGTCTTCTGTGATGTGCAACTGTAATAATATTCAGCAATCTTTGAAAATCTAATTCTATGTCTAACACAATAATTATCACTATGTGAACATGAGTTACTCAGACACAAGTCAGAACCTTTTATTGTTATACAGTAGTGACAGCCACAAGCCGGGTCACTGACTATATGTTTACCCTTACATTGTTTGTTTCATACAGCTCTCATGCATGCTGTGGTGTTTGGAAATGTAACAGCTATTATCCAGCGCATGTACTCACGTCGCTCACTATA[T/A]CATACACGCATGAAAGATCTAAAGGACTTCATTCGGGTTCACCGGCTGCCACAACAGCTGAAACAACGAATGCTGGAATATTTCCAAACCACCTGGTCTGTGAATAATGGCATCGATGTCAATGAGGTAAGATGGTTCTTGGCATCTTTAAGCATTTTTTTTGTAAAATAATTAGCATTTGCACAGATGTAAGTTTGTTTTACTATGTGTGGTGTGTTAAATCCCATTTTTAAATTTGATGTGTAATTTTAACATTATTTAAAACAATACATTATACTACTTTTAAAACTAAAGAACGTTCGAGGTTACAGAAGTAACCCTTCGTTCCCCAAGGAGGGGAACGGAAGTGCCATAGAGTGGATTGATTGAAATCCACGAAATGGGAGGATTCGGTTCAGAAGCCGCTTGTCTGAAAGAGTATTGAACGGGCCAATGAAAGCAATGAATTGGCAGCGTAAGCTTGCACAGGTGTACTTCATTGCCAATTATCCCAGCATATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10935
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000089042 | Nonsense | 748 | 1193 | 12 | 17 |
Genomic Location (Zv9):
Chromosome 12 (position 14567551)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 13423204 |
GRCz11 | 12 | 13461507 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATCATTAGGGAACCTTTTAGGAGAGGAGTTAATGCAATTCAATGCCCTA[C/T]GACATTGTCGCTCACCCGTCAGGGGCTGGAGTCCAAATCCCKCTCCAAAA
Long Flanking Sequence:
GTGCAATGAATTGCAGTTTGTTTGTGTGATTCTGGATTGAGGTTGGTGGGTGGTGGTCAGTTAAAATAATGGGGATGCTGTTGACATTGCATTCGAGAGTTGGTACCATAGGAAAACAAGATTGTTTACATTTTAAATTTAACCTAAAGGATCTTTCATCTTACTTCACTAGAGTAGCTATATTGGGTATTCCAGTTTATAAGTACAATTCCATCACAAGTCCAATGGTCATTCAAGCTACTGTACGCATATAATGATCTATCTCTTAGCAAAATGTCTTTGTCTCTTCCTTGCAGCAGAATTACCCAGACTTCAGTGTCTCAACTGAGAATAAGCGTCCATCCGTTGTAGAAAAGGCTGATGATCCAGACAAGTACTTCCATGTTTCATCTGCTTCTAGTACATGTAGGAATCTACTCCTGCCCAATCTAGGCAGCCCTGTGCGGCGAACATCATTAGGGAACCTTTTAGGAGAGGAGTTAATGCAATTCAATGCCCTA[C/T]GACATTGTCGCTCACCCGTCAGGGGCTGGAGTCCAAATCCCTCTCCAAAACCTCCAAGCAAAGTACAGAAACAAACCCAGCAACCTTCATCTACGCCTAAACCCATCCATAAAACACAAACAGATTCTGGAAGTATGGCGCGCAAACCTGCCAAGCTGCTCATCCCTACTCTCAACTGCTTTGGACCACCAGATCTTAGTCCAAGGTAACATACAGTCTCACTAAAGACGGCAAACTATATTATTATTACTACATCCTCATATCAATTTTCATACCTGGCTTTTTTGGAGCATTTGTATCAGAACATGGCCACATTTCCTCTTTTCAGTTCAGTTTGTTTAGGCCAGGGGTGCTTATATATATTAATCTGACTAAAGTCATAATTGAACTAAACAGAAATGAGATTAAGATGTGAAGTATGCATGTATTAGTGGCGTTATTGAAGTAAACACTGCAATCAAAACATTACCGTCATGTAGGACTTTTCGTCATACTTTCCC
Associated Phenotype:
Not determined