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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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ESPNL
- Ensembl ID:
- ENSDARG00000078211
- Description:
- espin-like [Source:HGNC Symbol;Acc:27937]
- Human Orthologue:
- ESPNL
- Human Description:
- espin-like [Source:HGNC Symbol;Acc:27937]
- Mouse Orthologue:
- Espnl
- Mouse Description:
- espin-like Gene [Source:MGI Symbol;Acc:MGI:2685402]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa20705 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa20705
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000108831 | Nonsense | 179 | 500 | 1 | 1 |
- Genomic Location:
- Chromosome 6 (position 27045305)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AAACCTGAAGTCCAACTTTGAGAATCAAAATGATTCTTCATTGGAGGATT[T/A]AATGAGGGTTGGATCATTGGTTCAACAAGTCCAACAACCAGTTAAGAATG
- Associated Phenotype:
- Not determined
Register
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