dytn

Ensembl ID:
ENSDARG00000071025
ZFIN ID:
ZDB-GENE-070124-2
Description:
Dystrotelin [Source:UniProtKB/Swiss-Prot;Acc:A2CI97]
Human Orthologue:
DYTN
Human Description:
dystrotelin [Source:HGNC Symbol;Acc:23279]
Mouse Orthologue:
Dytn
Mouse Description:
dystrotelin Gene [Source:MGI Symbol;Acc:MGI:2685061]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa8460 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa8460
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104744 Essential Splice Site 6 648 1 14
ENSDART00000127320 Essential Splice Site 6 148 1 5
ENSDART00000138668 Essential Splice Site 6 156 2 6

The following transcripts of ENSDARG00000071025 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 13027629)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 12884119
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTAAACAGTTTATSCGARCAGCAGACTGTTATGGATTTGGATARCATTG[G/A]TAAGTTTACTCTCTCAATTATTWAGAATTAAAAATGTCAGAMAATGTTGA
Associated Phenotype:
Not determined

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