ZMP
snrnp48
Ensembl ID:
ZFIN ID:
Description:
U11/U12 small nuclear ribonucleoprotein 48 kDa protein [Source:RefSeq peptide;Acc:NP_001108614]
Human Orthologue:
SNRNP48
Human Description:
small nuclear ribonucleoprotein 48kDa (U11/U12) [Source:HGNC Symbol;Acc:21368]
Mouse Orthologue:
Snrnp48
Mouse Description:
small nuclear ribonucleoprotein 48 (U11/U12) Gene [Source:MGI Symbol;Acc:MGI:1915047]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa25025 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa22904 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa25025
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113834 | Nonsense | 86 | 338 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 16 (position 38391331)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 37023859 |
| GRCz11 | 16 | 36977743 |
KASP Assay ID:
554-7731.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACACAAAGCCGTCTGTTGGCTCACACAGCAGGGATACTCTAAAGAAGAA[C/T]AGGTAAATAAAGGACCATATACTAAATGACTGCAAAATGTATTAATATAT
Long Flanking Sequence:
AATGTTTGGGGGAAAATATAATAAAAAATTAAATAGTATAAATAAATAATAAATCTTTTAAACATAAATAAACACATTAATAAAAAAAAACTAATGTATACAAAATTAGTTAAAACAATATTATTATTATTTTTATTATTTTTATTATTATATGATTATTAATACAAACTGTATGATTAAGTAAGGTTCAAGTAAAAAAACTAAATAAAATAAATCAATATAAGAAAAAAAAACTATATAGAAGATGGCTTTTAAATTTTAAGACGGGTGTCCCTATCACATTTGGGCATCATCTGTAGCCTCCAAAAATCATCTTGCCTAAATCTGTAAGATATTTGGGACATTTTTGAATATATCTGTGCTTCATTTGTGTAATTTCTTTTATAATTTGATAGATGGAAGTCTGTCCATACGATCCAAACCACACAGTTCCACAGAACAAGATGGAGAAACACAAAGCCGTCTGTTGGCTCACACAGCAGGGATACTCTAAAGAAGAA[C/T]AGGTAAATAAAGGACCATATACTAAATGACTGCAAAATGTATTAATATATCTTGTAATAAAAATGTGGTGTTTGGTTTGTCCATTTCTTTTTTCAGGCTGAAATGTATGATCCATCAGCATACTATGAGCAAGCTAACATTACTTCCATTTCCCTAGGTGAGTTTTTATTGTTATTCTTTTCTTGGTAAAATATTTTCTTATAAGTTCTTAATGAGCATACTTTTGATGTTTTGGGATTGTTGAGAGTTTTGCTGTCTGTGTGTGGCTGGTCAATGGTTGCTTTTATCTCCTGCAGAAAAAGACACATTTCAGCAAATAATTCTTCAGAGCAGGGAAAATGCGTCTCATTGGAGATCAACGGGACTTCACACACAAAGTTAGTATTAAGCTAGCTTGCGGCTTCATCTAAACAGTGATTTCAGCACTTTCATAAGAAGTAATGTGGCATATTTGAAATTGTGTGCCAAAATGCACTAGTAGCATCCACATCTTTATAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22904
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 |
|---|---|---|---|---|---|
| ENSDART00000113834 | Essential Splice Site | 87 | 338 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 16 (position 38391236)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 37023764 |
| GRCz11 | 16 | 36977648 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATATCTTGTAATAAAAATGTGGTGTTTGGTTTGTCCATTTCTTTTTTC[A/T]GGCTGAAATGTATGATCCATCAGCATACTATGAGCAAGCTAACATTACTT
Long Flanking Sequence:
GTATACAAAATTAGTTAAAACAATATTATTATTATTTTTATTATTTTTATTATTATATGATTATTAATACAAACTGTATGATTAAGTAAGGTTCAAGTAAAAAAACTAAATAAAATAAATCAATATAAGAAAAAAAAACTATATAGAAGATGGCTTTTAAATTTTAAGACGGGTGTCCCTATCACATTTGGGCATCATCTGTAGCCTCCAAAAATCATCTTGCCTAAATCTGTAAGATATTTGGGACATTTTTGAATATATCTGTGCTTCATTTGTGTAATTTCTTTTATAATTTGATAGATGGAAGTCTGTCCATACGATCCAAACCACACAGTTCCACAGAACAAGATGGAGAAACACAAAGCCGTCTGTTGGCTCACACAGCAGGGATACTCTAAAGAAGAACAGGTAAATAAAGGACCATATACTAAATGACTGCAAAATGTATTAATATATCTTGTAATAAAAATGTGGTGTTTGGTTTGTCCATTTCTTTTTTC[A/T]GGCTGAAATGTATGATCCATCAGCATACTATGAGCAAGCTAACATTACTTCCATTTCCCTAGGTGAGTTTTTATTGTTATTCTTTTCTTGGTAAAATATTTTCTTATAAGTTCTTAATGAGCATACTTTTGATGTTTTGGGATTGTTGAGAGTTTTGCTGTCTGTGTGTGGCTGGTCAATGGTTGCTTTTATCTCCTGCAGAAAAAGACACATTTCAGCAAATAATTCTTCAGAGCAGGGAAAATGCGTCTCATTGGAGATCAACGGGACTTCACACACAAAGTTAGTATTAAGCTAGCTTGCGGCTTCATCTAAACAGTGATTTCAGCACTTTCATAAGAAGTAATGTGGCATATTTGAAATTGTGTGCCAAAATGCACTAGTAGCATCCACATCTTTATAATTTCTTTTAAAAATATATATTCAATGTTTATCTGTGTTCTTTTCTTCCAGTAACAGGGGTGAGTATTTAAGGAAGTCTGGTCTAGACAATTTATCTA
Associated Phenotype:
Not determined