ewsr1a

Ensembl ID:
ENSDARG00000020258
ZFIN ID:
ZDB-GENE-030131-2317
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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15021 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15021
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
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:
Chromosome 10 (position 7004794)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GRGGCTTTGGAGGAAGGGGTCGTGGAGGSCCTCCAATGGATGACATGGGC[C/T]GAAGGGGSCGAGGAATGGGACCACCGGGSAAAATGGATATGAAGTGAGTA
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/dlmpu78q