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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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NP_001136427.1
- Ensembl ID:
- ENSDARG00000070217
- Description:
- hypothetical protein LOC751699 [Source:RefSeq peptide;Acc:NP_001136427]
- Human Orthologue:
- C1orf151
- Human Description:
- chromosome 1 open reading frame 151 [Source:HGNC Symbol;Acc:32068]
- Mouse Orthologue:
- 2310028O11Rik
- Mouse Description:
- RIKEN cDNA 2310028O11 gene Gene [Source:MGI Symbol;Acc:MGI:1913628]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa14048 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa14048
- 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:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000125739 | Essential Splice Site | 38 | 76 | None | 4 |
| ENSDART00000132266 | None | 76 | None | 4 |
The following genes are also affected by this mutation:
- Genomic Location (Zv9):
- Chromosome 23 (position 40046827)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 39857680 GRCz11 23 39750591 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GGTACKGGTCTGGGTCTAGGAATTGTGTTCTCTGTTGTATTCTTCAAGCG[T/G]AAGTGTACTACATAGTGCATGCCGAGTGAAGCTACTGTAGAGCTGCATGA
- Associated Phenotype:
- Not determined
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