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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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BACE2 (1 of 2)
- Ensembl ID:
- ENSDARG00000086067
- Description:
- beta-site APP-cleaving enzyme 2 [Source:HGNC Symbol;Acc:934]
- Human Orthologue:
- BACE2
- Human Description:
- beta-site APP-cleaving enzyme 2 [Source:HGNC Symbol;Acc:934]
- Mouse Orthologue:
- Bace2
- Mouse Description:
- beta-site APP-cleaving enzyme 2 Gene [Source:MGI Symbol;Acc:MGI:1860440]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa12389 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa12389
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- C > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130000 | Nonsense | 109 | 131 | 3 | 4 |
- Genomic Location (Zv9):
- Chromosome 15 (position 6724125)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 15 6496127 GRCz11 15 6493460 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- CGCATGTTGGATGAGAGGAGAGTCACCATGGAGGTTTTTTCCAAAAGTCT[C/A]AATCTACCTCAGAGGAACGAACMCCAGCCAGTCCTTCAGAATCACTATTC
- Associated Phenotype:
- Not determined
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