ZMP
aarsd1
Ensembl ID:
ZFIN ID:
Description:
Alanyl-tRNA editing protein Aarsd1 [Source:UniProtKB/Swiss-Prot;Acc:Q6DEJ5]
Human Orthologue:
AARSD1
Human Description:
alanyl-tRNA synthetase domain containing 1 [Source:HGNC Symbol;Acc:28417]
Mouse Orthologue:
Aarsd1
Mouse Description:
alanyl-tRNA synthetase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1916934]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18183 | Nonsense | Available for shipment | Available now |
sa41961 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa18183
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000002583 | Nonsense | 35 | 412 | 2 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 6746180)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 6029100 |
GRCz11 | 12 | 6062684 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCGTGTCTTGCGTGCCTGCAGAATTAAAACTKGAGAAWAATGGAAGGAAA[G/T]AGAAGCTGACGGGKTTCAATGTGAAACTRAAAGACACTATTCTCTTTCCA
Long Flanking Sequence:
CATTTAAATGTTTGCTTACGCAGTGAGTAATGAGCATTATCTGAATATACGAATGTCTATGTAAGGTTACTGTATTTTCAATGACAGCAAATGACCAGCACTGACAGCTGCACACAATATACTTTCTTGTATGAACCATGACACATTACACATAATTCTGATATTTTAAAATGTGATATTGACTTTGAGTTAAAAAAAAAAGGTATTTCACCCCCAAAATGTGATTTACTCAATCTAAAGTAAAAAAAAAAATACATTCAAGTTTATTAAGATAAGTAATTGATGAAAGGAATTTCAACTGTGGATGAATTATTCCTTTAAGTTACTTTTTACAGATGTATTTGTAATATGACTATTTATTAAAATACACATATGAATATGAGCTAAAAAAGGTTAACCAACCAATGTACAATTTTGTTTTTCAACCTTTTTTTCAGTTTGACACTTGTGTCGTGTCTTGCGTGCCTGCAGAATTAAAACTGGAGAATAATGGAAGGAAA[G/T]AGAAGCTGACGGGGTTCAATGTGAAACTAAAAGACACTATTCTCTTTCCAGAGGGTGGAGGACAGGTGAGTGGCAATGGTAAATAAACTTAGCCAGATCTATTGTCTGAATTAGGGTTGCACGATAATTGTAAAATTTGATATTACAATATGGAACTTTTTCTGCTATTATGGCGATATGGATACAGTTTCACAAGATAGATTTTAATAGCACTGTTTTCTGGGGAGCCTAACAGTATTCAGGTACAAGAATTGAATAATAACAATGTAATAAAATGCTTTTCTCACTTTGCTTTGTCTTGTTTCTAGTCCAAATATCTAAAAATGCTTAGATCAAGTAAAAATACTGTTTTGTTTTCAACTTGAGAAGAAATTATTCAGATAGAAGAGTTTTTATTAAAGCAAGCACCAGTTGGGTAAGTAAAATAATCTTGTTTTCACATTAAGACTAGAACCACAACAAAAATTTTGAGTACGATTTTATATATATATATATATATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41961
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000002583 | Essential Splice Site | 220 | 412 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 6741683)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 6024603 |
GRCz11 | 12 | 6058187 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCCAACATGTGCTGTGGAACTCATGTGTCCAACCTCAGTCACCTTCAG[G/T]TTAGTCTTTCACTGCCTCCTAAAGAGATAGTTCACCCAAAAATGTAGAAG
Long Flanking Sequence:
TCAATGACTTAAAGGGATAGTTCACTTAAAAAAGGAAAATCCACTCACCCTTTTATTTCTTTCAAACCATCATGAGTTTCTGTCTTCGTTTAAACACAATAAAAGATTTTTTTTGAAAAATGTCTGAAACCTGTAACCATTGACTTCCATAATACTTGTTTTTCCTACTATGGAAGTCAATGGTTATATGTTTTCAGCTTCTTTAGTGTTCAACAGAAGAAAGAAACTTCTAAAGGTTTAGCACCACTTAAATGAGTGTGAGTAGTAAGTAAATTTTCAATTTTGGGTGAACTAACTTTTTAATGATCGGAAAAAATAAAACATCCTGTACAAATTTAACTTTCACTTAACACATTGTTGACTTTTTTTTTTCACGTATACAGGTAAGAAGTCGTGGTCTTCCAGATGACCATGCTGGACCCATCAGGATCATAGATATTGAAGGTGTAGATGCCAACATGTGCTGTGGAACTCATGTGTCCAACCTCAGTCACCTTCAG[G/T]TTAGTCTTTCACTGCCTCCTAAAGAGATAGTTCACCCAAAAATGTAGAAGATTCTGGCATCATTTACTCATTCTAAATGTTCTCATCCTTACTGTTCCAAAACAATATGATTTTCTTTCTTCTGTTGGACACAAAAGAAGTTACTTCGAATAACCTTGAAATCCAATGCTTTTTTTTCCCCTATGGATTTTTTTTTTTAAATGCCACTGGTTACCAACATTCTTCAAAATATCTTTTGTGTTCAACAGAAAAAAATAAACATAAATAAATTCCCATTTGAACTTTATATTGTGGCCTTAACTAATATGTACTTACACAGGAATTAATAGTTTATTACAATGTACTTATTGTGTAAATACATGTATTTACTGTGTACTTATGCTTGATTAAATACATGTATGTAATTACATCTATAATTAACTTATTACATTTGTAAATACACTGTTGGCCATCCCTTACACCTTAATCCACCCTTAAACCTACCCATGCCACCAAACCTG
Associated Phenotype:
Not determined