LOC560542

Ensembl ID:
ENSDARG00000008377
Human Orthologue:
EPN2
Human Description:
epsin 2 [Source:HGNC Symbol;Acc:18639]
Mouse Orthologue:
Epn2
Mouse Description:
epsin 2 Gene [Source:MGI Symbol;Acc:MGI:1333766]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa20093 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20093
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055176 Essential Splice Site 400 590 6 8
Genomic Location:
Chromosome 3 (position 39678311)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGGAGGACTTCTCTGAGTTTGACAGCATTCGCTCCTCAGCACTGACAGG[T/C]AAACGATGACTACCACGACTTCGTTTTTCAAATTAGAAAATGGGTCATTG
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/tbjln9u1