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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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cpne1
- Ensembl ID:
- ENSDARG00000075536
- ZFIN IDs:
- ZDB-GENE-030131-3562, ZDB-GENE-030131-3562
- Description:
- copine-1 [Source:RefSeq peptide;Acc:NP_955993]
- Human Orthologue:
- CPNE1
- Human Description:
- copine I [Source:HGNC Symbol;Acc:2314]
- Mouse Orthologue:
- Cpne1
- Mouse Description:
- copine I Gene [Source:MGI Symbol;Acc:MGI:2386621]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa44741 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa44741
- 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 2018.
- Mutation:
- G > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087652 | Essential Splice Site | 1 | 533 | 2 | 16 |
| ENSDART00000103513 | Essential Splice Site | 1 | 534 | 2 | 16 |
- Genomic Location (Zv9):
- Chromosome 11 (position 27323823)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 11 26152648 GRCz11 11 26390264 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CGAGGCCAAATCTTAATACATGTTTTTATCTGTTGTGTTTTTTTTTTTCA[G/T]ATGGCCGCTCAGTGTGTGTCCAAAGTCGAGCTCTCCATCTCTTGTAATAA
- Associated Phenotype:
- Not determined
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