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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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NP_001122046.1
- Ensembl ID:
- ENSDARG00000067847
- Description:
- hypothetical protein LOC100150203 [Source:RefSeq peptide;Acc:NP_001122046]
Alleles
There is 1 allele of this gene:
Allele name | Consequence | Status | Availability Estimate |
---|---|---|---|
sa35618 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa35618
- 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 > A
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000097748 | Essential Splice Site | 98 | 151 | 3 | 6 |
- Genomic Location (Zv9):
- Chromosome 14 (position 1319081)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 14 1295655 GRCz11 14 1308327 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TAAAGAAGTCACAGAGAAGTGTCCACCACGAGCTGCGCAAATCATTCATC[G/A]TGAGTGTGTGTTTATTACATGAAGAAGCAGTGCATGTACACACCTCAGAC
- Associated Phenotype:
- Not determined
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