ZMP
ewsr1a
Ensembl ID:
ZFIN ID:
Description:
Ewing sarcoma breakpoint region 1a [Source:RefSeq peptide;Acc:NP_001108610]
Human Orthologue:
EWSR1
Human Description:
Ewing sarcoma breakpoint region 1 [Source:HGNC Symbol;Acc:3508]
Mouse Orthologue:
Ewsr1
Mouse Description:
Ewing sarcoma breakpoint region 1 Gene [Source:MGI Symbol;Acc:MGI:99960]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa44719 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa15021 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa44719
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000024282 | Essential Splice Site | 504 | 626 | None | 16 |
ENSDART00000141445 | None | None | 325 | None | 10 |
The following transcripts of ENSDARG00000020258 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 10 (position 7005166)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 8017966 |
GRCz11 | 10 | 7976666 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAATTAATTGCCCAGAGCCTGTTCAATGAGGATTTACTTCTTTTTTTTT[A/G]GTGGATGTGGAAACCAAAACTTTGCCTGGAGAATGGAGTGTAATCAGTGC
Long Flanking Sequence:
GATGGTGCGTTGATCTGAACCAAAATCAGTCCTCAAAGGAATGAAATGAGCCCTCAACATGAATGTTTGTTCTTTAGGAAAAGATTTCCAAGGGAAGAAGCTGAAGGTGTCAATGGCCAGACGCAAGCCCATGATGGGTATGATGCGCGGGGGTATGCCAATGAGAGGAGACCGCGGTGGCATGATGGGACGAGGAGGTACTCTGCTGCATTCATGTTTCAGATGCAGCCATTTAATTTCACAGCAGTTTCAATATAAATCGTCTCTCTCTCCAGGAATGATGGGTCGTGGTGGAATGGGCAGAGGTGGTGATCGCGGAGGGTTTATGCCACGTGGGGGTCCCAGGGGAATGGGTCGTGGAGGACCTACTGGAGGAAACATGCAGCAGAGGGCAGGAGACTGGCAGTGTCCAAATGCGTATGTATTTCACTAGTGATGCTTGATCAGAGTACAATTAATTGCCCAGAGCCTGTTCAATGAGGATTTACTTCTTTTTTTTT[A/G]GTGGATGTGGAAACCAAAACTTTGCCTGGAGAATGGAGTGTAATCAGTGCAAGGCACCCAAACCTGAAGGCTTCGGACCTCCTCCCTTCCCTCCAGGTTACTTTTTATATTCATGTAAAGCTCTTATAGGCGCTTAAAGTGTTTGCATTGCTAATATTTAATGAATCCTATGTGATTCAGGTGGTGATCGCGGTCGTGGTGGTCCTGGTGGGATGCGTGGTGGTCGTGGTATGGATCGCGGAGGACCAGGGGGACCCGGAGGCTTCCGTGGAGGCAGAGGTGTGGACCGTGGAGGCTTCAGAGGACGTGGTATGGACAGAGGGGGCTTTGGAGGAAGGGGTCGTGGAGGCCCTCCAATGGATGACATGGGCCGAAGGGGGCGAGGAATGGGACCACCGGGCAAAATGGATATGAAGTGAGTATTAAGCTCGTCTCTGTGATGGTGTTAAAGCCATAAAACGGAACATATTAAATTGAATCTTTTAATTATTTTGCAGGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15021
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000024282 | Nonsense | 600 | 626 | 15 | 16 |
ENSDART00000141445 | None | None | 325 | None | 10 |
The following transcripts of ENSDARG00000020258 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 10 (position 7004794)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 8017594 |
GRCz11 | 10 | 7976294 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GRGGCTTTGGAGGAAGGGGTCGTGGAGGSCCTCCAATGGATGACATGGGC[C/T]GAAGGGGSCGAGGAATGGGACCACCGGGSAAAATGGATATGAAGTGAGTA
Long Flanking Sequence:
AGGAAACATGCAGCAGAGGGCAGGAGACTGGCAGTGTCCAAATGCGTATGTATTTCACTAGTGATGCTTGATCAGAGTACAATTAATTGCCCAGAGCCTGTTCAATGAGGATTTACTTCTTTTTTTTTAGTGGATGTGGAAACCAAAACTTTGCCTGGAGAATGGAGTGTAATCAGTGCAAGGCACCCAAACCTGAAGGCTTCGGACCTCCTCCCTTCCCTCCAGGTTACTTTTTATATTCATGTAAAGCTCTTATAGGCGCTTAAAGTGTTTGCATTGCTAATATTTAATGAATCCTATGTGATTCAGGTGGTGATCGCGGTCGTGGTGGTCCTGGTGGGATGCGTGGTGGTCGTGGTATGGATCGCGGAGGACCAGGGGGACCCGGAGGCTTCCGTGGAGGCAGAGGTGTGGACCGTGGAGGCTTCAGAGGACGTGGTATGGACAGAGGGGGCTTTGGAGGAAGGGGTCGTGGAGGCCCTCCAATGGATGACATGGGC[C/T]GAAGGGGGCGAGGAATGGGACCACCGGGCAAAATGGATATGAAGTGAGTATTAAGCTCGTCTCTGTGATGGTGTTAAAGCCATAAAACGGAACATATTAAATTGAATCTTTTAATTATTTTGCAGGGGAGACCACCGCCAGGACCGTAGAGAGCGGCCGTATTAATTGATGCCCAGCGTGTTCTTCCTGCCCCAATGTTAATTTCTCACATGGTTTTAAAGTTGCATTTCCATATTTATGAGTAGTTAGTATGGAACTCGTTAATGCTTTGCCGTTAGTCTTCAGTGAAGGTTATATTTTATTTTTTTAAGTTTTTGTGTTTTGTCCTCGCTTTCCTGGTCAAGAAGTGTCCATGAAACCAGGTGCACATGTAAATGCAGGGTGTTTGGTGTGCCATTTGGATTTGTCAGAAATGTATTTGTGGAAATGTGAGGGTATTTTTAAGTTCCCAATAACCCTCATGTTTTGCTCTACTCTGCGTTCATGTGTGGAAATGTGGA
Associated Phenotype:
Not determined