LOC100148175

Ensembl ID:
ENSDARG00000035952
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
sa5235 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa5235
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
ENSDART00000052179 Essential Splice Site 65 431 2 6
Genomic Location:
Chromosome 3 (position 59317774)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTTCAGCAGATGTACTCCACCAATCACGAGCAGCTGCAGGAGATCGAGG[T/C]GAAGCTTCTAATAAACAAAACACACACACACACACACACACACACACACA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/e8qnu3hg