LOC564556

Ensembl ID:
ENSDARG00000037084
Human Orthologue:
CPNE7
Human Description:
copine VII [Source:HGNC Symbol;Acc:2320]
Mouse Orthologue:
Cpne7
Mouse Description:
copine VII Gene [Source:MGI Symbol;Acc:MGI:2142747]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7101 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7101
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091052 Essential Splice Site 227 559 6 15
Genomic Location:
Chromosome 7 (position 69599634)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ARGTGTCTCTCATTTCCCTGTGCAGCTGTGAYGACGAAAGGAAGTTAAAG[G/A]TAAATRTTAATRSATAAGGTCACTCATTTTKTACCTAACCTWTTTGACTG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/hc62wusu