Busch Lab

ZMP

nola1

Ensembl ID:
ENSDARG00000076526
ZFIN ID:
ZDB-GENE-040426-893
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.
Availability:
Order Allele From ZIRC
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