ZMP
si:ch1073-412h12.1
Ensembl ID:
ZFIN IDs:
Description:
Novel PX domain containing protein [Source:UniProtKB/TrEMBL;Acc:B8JLT3]
Human Orthologue:
RPS6KC1
Human Description:
ribosomal protein S6 kinase, 52kDa, polypeptide 1 [Source:HGNC Symbol;Acc:10439]
Mouse Orthologue:
Rps6kc1
Mouse Description:
ribosomal protein S6 kinase polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:2443419]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12395 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12395
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000131461 | Essential Splice Site | 156 | 312 | 5 | 8 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 3304889)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 3248543 |
| GRCz11 | 20 | 3266044 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACCCTTTTCTGATTTTCTAGCTGAYAGYCTGTTAGACAGCAGTTCTGAAG[G/A]TARGTCTCTACACTATTTATTGCTCACAGGTTTATGTATTGCTCCCCACA
Long Flanking Sequence:
TGTGGATCGAAGGTGTAACCATAGCAAAACTTATGCATTTTAAAACTAAAACATATTAGTGTGAATGGAGCCTTAATTAACTGCACAACTTTATTGTTAACATCATTTACAGTTTCACCATTTTTGTGGTGTAAATACCCAAGAGCAGGTTTAAAATACTATGTGAAACTGCGTTTATATTTCTATGCGAATGCTGGCGATAATGGCAAAGGGGTCAGCCGTACATTTTCCCATCATATTGATAATTTGCAAATATTTTACTTTGGATTTTCTTTTTAAGAGTAACAACTAGAGTAACAACTGCTTTGGAAATAAAACGTAGTCACTATTAATTAAACACAATAATTAAACATGGTAGCATCCAATGGTTTGTTGTCATATGTGTGTGTGTTTTTGTTTGAAATAGGGTGGAGAGGTACAAGACAGCTCTGAGCTAATTGGACCAGCCGAACCCTTTTCTGATTTTCTAGCTGACAGTCTGTTAGACAGCAGTTCTGAAG[G/A]TAAGTCTCTACACTATTTATTGCTCACAGGTTTATGTATTGCTCCCCACATTTTAAAAAAAATCCACACTGGATGTGTTAGCGGGAGTTCATTTGAGTATTGACTAAGGGTGTCACGATTTCGATTTTTAATCGAAATCGATCGAAATTTATGCTTAACTTCGATTATCGAATCAAAAAATAGAATCGTTGATGCTGCCACGCCCCCATGTCGGGTTAGCTTGGCTTGCCAAGCGTGAAAAACATGCTTGTTGAAGTGCTTGTTAAACTGCAGACGCAGGAGACCCGTCGACAGAGCTTAAATCCTCTCCTCTTTCAATGAAGTCGCCGGTGTGTAAGCATTTTAGATTTCCAGTGAGTTATGTTGACAACGTTCGTGTTGTCGACAAAAAAACACAGTTCGCAAGCTCTGCTATGTACGTATTACGGTTGGGATGATAGACGATGGGTGCATCGCGATCCTCCGCCCCGCACCCGTTGCAAATCCGTTACACACTCAGG
Associated Phenotype:
Not determined