ZMP
nola1
Ensembl ID:
ZFIN ID:
Description:
H/ACA ribonucleoprotein complex subunit 1 [Source:UniProtKB/Swiss-Prot;Acc:Q7ZVE0]
Human Orthologue:
GAR1
Human Description:
GAR1 ribonucleoprotein homolog (yeast) [Source:HGNC Symbol;Acc:14264]
Mouse Orthologue:
Gar1
Mouse Description:
GAR1 ribonucleoprotein homolog (yeast) Gene [Source:MGI Symbol;Acc:MGI:1930948]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22535 | Essential Splice Site, Missense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22535
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, Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111189 | Essential Splice Site | 222 | 225 | 6 | 7 |
| ENSDART00000122339 | Missense | 223 | 225 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 14 (position 45853486)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 14 | 43198498 |
| GRCz11 | 14 | 43610171 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGAGGATTCAGAGGAGGCAGAGGTGGAGGCGGTGGACGTGGATTCAGAG[G/A]TAAATTAGCAGATCGTCAGAAATAAGTCATCTAAATGAAAATGTCTTTGC
Long Flanking Sequence:
TCATTTTTAGGCGTCTAGCAGCTTTCGCATCTGAACTCTTCATATATTTGATTGTAACTTTAACTTAATTAGGTTTTAATGTAGTAATGTGCATTTTTATAAAGCTTCTTTGAGACAATAGTTATTGTCAATAGCACTATACAAATACACTTGAATTGAATTGATGCATTATATCTTATCTATAATACCCAAGTCCCCCACTATTGTTTACATCCCTGTACATAAGGAAGATTTAGAGCAACTTAAATTTCGCCAAAACAAAGGAATAACATTATATGGGCACTTGACCATGTAATTGTATTATGTTAGAATTGGTTTCTGCCTTTGAGAGAGTCCTAAAGTGAATATTGTGTCTGCAGGCGGCTTCCGTGGAGGTCGTGGTGCCAACGGTGGAGGTCGTGGAGGATTTGGTGGACGCGGAGGAGGATTTGGTGGACGTGGAGGTGGCGGTGGAGGATTCAGAGGAGGCAGAGGTGGAGGCGGTGGACGTGGATTCAGAG[G/A]TAAATTAGCAGATCGTCAGAAATAAGTCATCTAAATGAAAATGTCTTTGCTGCCATATTTGATCAATTTGAAAGGATAGTGTACCCAAAAATTTTAATTGCTGATTGTGTTCTCACTCTCCAAGATGTAGGAGAGGTTTTCTTGAGCAGATGAACATAAAAGATTATCTTAGCTAAAACGGTGCTCATTGATGAATACAGCATTTCTCGTGATGATACACTGAGGTTTAATGAAACCAAGCAATCATTCTGATCAATGAACTAAATAATGACAGATATTTTTTTCCCTCATACTTCTGTCAGAATGGGTACGAAGTTGGCATTTGAAATGGTATTAAACTGGTCTTAAAAAGCCTTAAATTTCAATTGGAGGATCCTAGGGGTACCCTGTCTTTATCCAAGTTGTTAACAATACTCATCCATCCCCAGAATTTGTAATGTAGTCAGATGTGTAAACATTTAGCTGTGGTTAACGCTTCTGCCTTTTTATTTATTTTATAT
Associated Phenotype:
Not determined