ZMP
ENSDARG00000089771
Ensembl ID:
Human Orthologue:
KCTD5
Human Description:
potassium channel tetramerisation domain containing 5 [Source:HGNC Symbol;Acc:21423]
Mouse Orthologue:
Kctd5
Mouse Description:
potassium channel tetramerisation domain containing 5 Gene [Source:MGI Symbol;Acc:MGI:1916509]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa24544 | Essential Splice Site | Available for shipment | Available now |
sa14096 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24544
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000130211 | Essential Splice Site | 92 | 218 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 24 (position 38803161)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 37402740 |
GRCz11 | 24 | 37290460 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGTTAAACAATGCTTCGAGATTTGAATATATCGTCAATTGTGTGAGGTG[T/A]CAATTTAAGAAACCTGCTGGGTGAACACACTTGTTTATATGATTAGCAAT
Long Flanking Sequence:
AGTTTGCAAGGATTTTAATGTGTTTGATTTTACGAAAAAGTATGGTTTCAATTTTGAAAACCGAACAGAATTAAAATAAAGATGCTTTATTATAACTATAATAATTGTGTACTTGTAGTTGTTTATTAAATCTTACTATCTTATATTTAATTTTTTTTGTACTGCAAGGATAAAGCTTACGTTATATTATAGCGCAAAAGCGCTATAATATAGTCAACGCTATAGTCAAAAATTTACTGCAGTTCACTAAACAGCCACCGGTGTCACTAATAAGCTTTACAAATTCCACATAAAACCATACCTGCCAACATTTGACGTCTAAATTCAAGGAGAACGGGAAGGGGGATGTCTACTTTTGTCCACTACTACTGACATTTCTACCGAATCTCGCATCTACCACCTGCACAGAAATCTACAACGCAACTGGGTTGTAACGTATGTTGCCAGATTGAGTTAAACAATGCTTCGAGATTTGAATATATCGTCAATTGTGTGAGGTG[T/A]CAATTTAAGAAACCTGCTGGGTGAACACACTTGTTTATATGATTAGCAATGCTAAAGTCAGTTATTCTCCTGCGGAATATGCGTTCCGTGTCAGAACGTCTGTCCTTGTTTTGGTCTCTATAACCAGCCCACTGCCAGTTTAGCCAATTATATTTGAGCACTCCAGGTTGCCTTGGCTGAAAACACAGCATATTATTTCAGTCATGAAGGATGGGTTAATAAATGCGGCTGTAACCAAAAATGCGACCTCCAGAGGGCAGTAGCTGCCTCCGAAATGAGGTGGTTTTTAATTAGCAATAAATATGGAAAAATGTGGTTTAAGTTTTGAAAACCAAACAAACATTAAAACCAAACTTTAAATAATGTTGGATAATGTAGTTATATATGAAATTTTACTGTCTCATATTTGAACTTTTGTGTTTTGTACTGCAGTGATTTTCCTCACGGGATGTGTATTTTGTAAAATTGTTGACTGCAGTTCACTAAACAGCCACAGGTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14096
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000130211 | Essential Splice Site | 135 | 218 | 6 | 9 |
Genomic Location (Zv9):
Chromosome 24 (position 38800000)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 37242715 |
GRCz11 | 24 | 37287299 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAAAACTGAWCAAGGAGAAAATCATCGAAAGRGACGCCAAGAGCACACAC[G/T]TAAGAGAGCGTCAACACAACGCKGGGACCAATATTTTAATRCTACTTAYA
Long Flanking Sequence:
CATGCATAGACACAGACATAAAAACATACACAGATGCACAAACACACATACACACACAAAAACACACACACAAAACCAAAAAAATACACTCAAACACACACTAACAGACACACACATACTCAACTTGCACTCAAACACACTAACACACACACATACAAGCACACAAACACACACAGTCATTTAAACGCACATCCACACACATAATCTTACACACAGTCACAGATACACAAACACACATAGACACAGACATAAAAACACACACACACAGACATACAAAAGCACAGAGATACATACACACGCATATTCTCAAACACACAGACATAAAAAACACACACATGCAAACACACACAGAGACTGTGACTAAAGCATCGAATCTGTCCTCGATGTGTGTGTGTGTGTGTCCATCAGGAGCTCTTGAAGAGGCCGAGTTCTACAACATCACCTCACTAATAAAACTGATCAAGGAGAAAATCATCGAAAGAGACGCCAAGAGCACACAC[G/T]TAAGAGAGCGTCAACACAACGCTGGGACCAATATTTTAATACTACTTACATAGGTCACGTTTGAGCATGTTTGTATAGAGTGGCCTCCAATGATTTTTCAGCATTTAAAGCTTCAGTACGCCAATTTGGCCACTAGAGGGTGTGTATTCACAACAAACAAAGGTGTAGTTTCATGACTGAGTGTGGAATCGTGGAAGTTGTGGTCTTCATTACATCCCATTACAGTTTTTTTTTATTATTTTGCCACAAATTTCAAAACCCTGATGTCAATATGCAACACTCTAGACGCAAAACTCAAAACTTTGACAGGAATAGTGAAAAGCTCCGCCAGAGCGCGTCTGAAGCTCATATGCAAGTTTGTTTTACAGTCTATGGCAGAAACACCATTGAGCCTCGTGAGATCCTCCTTTTTGGGCGCGCGTCTGTTATAACACACTCACAGGACATTCATTTGGACAACTATGTAGATATATCAAATAGTTTACACCAGGGGTCACCAA
Associated Phenotype:
Not determined