CDR2 (2 of 2)

Ensembl ID:
ENSDARG00000037359
Description:
cerebellar degeneration-related protein 2, 62kDa [Source:HGNC Symbol;Acc:1799]
Human Orthologue:
CDR2
Human Description:
cerebellar degeneration-related protein 2, 62kDa [Source:HGNC Symbol;Acc:1799]
Mouse Orthologue:
Cdr2
Mouse Description:
cerebellar degeneration-related 2 Gene [Source:MGI Symbol;Acc:MGI:1100885]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa21992 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa21992
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054363 Essential Splice Site 114 563 3 5
Genomic Location:
Chromosome 12 (position 1201018)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACCAGAAGCTGACGCAGGAGAACCGAGCAGCGCAGATAAAGATCCAAGGG[T/A]GAGGCTCCAGACAGCAGCTGCTCACGGTGTCCTAAAAGTAGGAAGATGTA
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/1w4mqno5