ZMP
KIAA1432 (2 of 2)
Ensembl ID:
Description:
KIAA1432 [Source:HGNC Symbol;Acc:17686]
Human Orthologue:
KIAA1432
Human Description:
KIAA1432 [Source:HGNC Symbol;Acc:17686]
Mouse Orthologue:
C030046E11Rik
Mouse Description:
RIKEN cDNA C030046E11 gene Gene [Source:MGI Symbol;Acc:MGI:1924893]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa29487 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa12886 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa29487
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082377 | Essential Splice Site | 512 | 1191 | 23 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 925881)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN150529.1 | 69593 |
GRCz11 | KN150529.1 | 69593 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACACTAGTTTGTAAATGTTTGTGTGTGTATTCTTGCGTGTATGTGTGTG[T/C]TTCAGGAGCAGAATATGACTGTGACCGGTGGTCTTGCGTGGTGGAATGAC
Long Flanking Sequence:
TGTGTGTGTGTTTATGTTCAACTGTTTGTTTGTGTGTGTGTGTGTATTTGTTTGCAACTGTGTGTATTTGTTTGCAACAATGTGTGTTTGTGTGTGTATGTGTGTGTATTTGTTTGCAACTATTTGTGCATGTGTATTTGTGTGTGAATGTGTGTTTGCAACTATTTGTGCATGTGTGTGGATGTTTGTGTGTTTATTCATGTGTGTGTATTTCTTTGTGTGTGTATTTGTTTGCAACTATGTGTGCGTGCGTGCGTGTGTGTGCGTGCTTGTGTATGCGTGCGTGCGTGCATGCGTGCTTGCGCGTGTGTGTGTGTGTGTGTGAATAATTCTGTGTATGCATGTATGTGCTTGTGCATATGTTTTTGTGCATGTGTGTGTGTGTGTACACTTGTGTTTGTGCCTGTGTGAGTGTGTATTAGTGCGTGTGTAAATGTTTGCGTAATTGTTTACACTAGTTTGTAAATGTTTGTGTGTGTATTCTTGCGTGTATGTGTGTG[T/C]TTCAGGAGCAGAATATGACTGTGACCGGTGGTCTTGCGTGGTGGAATGACTTTGTTGTTGTTGCCTGTTACAATTTCATTGATCGTCAGGAAGAGGTAAGACGAGTCACTCCTCGGAGTGGGTGTGGGTGTGTGTTTATTTATTTATGTGTGTGATTGTGTGTGTGTGTGTGTGTGTTTATTGATGTGCTTATAAATGTGTGTGTGTGTGTGTGTGTGTTTGCAGCTGCGGTTGTACGTGCGCTCTGCTAACCTGGATAACGCATTTGCCAGCATCACTAAACTGCACGCCGACACACTGCTGCTCAACGTGTTTCGCAACATGGTGATTCTGTTCAGAGCCGACTGCTCCATCTGCCTGTACAGCATCGAGAGACGCCACGACGGGTACACACACACACACACACACACACACACACAAAACATTTTTCATACAATACCACCATTATTCTCACACACAAAACATCATAGACGCACGTGGACACACACACACACACACAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12886
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 |
---|---|---|---|---|---|
ENSDART00000082377 | Essential Splice Site | 810 | 1191 | 28 | 33 |
Genomic Location (Zv9):
Chromosome 21 (position 928380)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN150529.1 | 72092 |
GRCz11 | KN150529.1 | 72092 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACGGTGGAGAGAACATCAMAGATATACCYGCAYCACATACTAAGACAGG[T/A]AATATTACAGTTCAGCATGTTTAAAGGAGACCTGTTATRCTGCTCTACAC
Long Flanking Sequence:
TATAAAACATATGCTGTAATAGTTGGTGGTTCATTCCGCTGTGGTGACCCCTGATGAATAAAGGGATTAAGCCGAAGGAAAATGAATGTAAATATATGTTCCTGGTGGTCCTCCCCAGCTGCCGTTCTGCCCGCCGGTGGTTCTGGCGCAGTGTGTGGAGAGCGTGTGGACGTCGAGTCGCAGTAACCGTAAGAAGCGTCACCTGATGGAGGCGCTGTGGCTCTCCTGCGGAGAAGCGGGGATGAAGGTGTGGTTGCCGCTGTTCCCCCGAGACCACCGAAAACCGCACTCGTTCCTGTCCCGCAGGATCATGCTCCCCTTCCACATCAACATCTACCCGCTGACGGTGCTGTTCGAGGACGCGCTGATCCTCGGAGCTTCCAACGAGACTGTGCTGTTTGACGGGCTGAGCTCGAGTGCGGAGCCACTAGAGGCGCTGTTCCCCTACTGCACGGTGGAGAGAACATCACAGATATACCTGCACCACATACTAAGACAGG[T/A]AATATTACAGTTCAGCATGTTTAAAGGAGACCTGTTATACTGCTCTACACAAGATGCGAAAAAAAAAGTCTCTGATGTATAGAGTGTGAAGTTTGACCTCAAAAGATTACACAAACAATGCTCTCTGAAACGGACCCTTTTTATCTTAATTGTGGGGTTTTGGTGACTGTTGCTTTACATGCAAATGAGATTGTGCTCTTTTCAGAAAGGGGCAGAGCTACAAATGAGTGTATCAGCATAATGGCAGATTCAAACCAGGACGTTATCTGTGTGAAAGTGTGTGTAAAGAGATATTACCCATACCTCCAGACCGGTTTTTTTTGTGTTTATTTTATTGTTTATTATTTCATTTGTTGGTTTGTTTTATTTAATTAAATTAAATTACATTTTTATTTAAATGTTTTTTTTTTAGTTTATTGTAATTTTAATTTATTTGTGTGTTTTTTGTTTATAATTTTTTTTTCGTAATGAGCAGTGTGTGCAGAATATTTATTTTATTA
Associated Phenotype:
Not determined