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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-133j6.3
- Ensembl ID:
- ENSDARG00000058332
- ZFIN ID:
- ZDB-GENE-090312-205
- Description:
- LOC553479 protein [Source:UniProtKB/TrEMBL;Acc:Q502A4]
- Human Orthologues:
- AC090051.1, KRT18
- Human Descriptions:
- keratin 18 [Source:HGNC Symbol;Acc:6430]
- Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C9JEA8]
- Mouse Orthologue:
- Krt18
- Mouse Description:
- keratin 18 Gene [Source:MGI Symbol;Acc:MGI:96692]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa45788 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa11708 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa45788
- 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:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081193 | Nonsense | 196 | 410 | 3 | 7 |
- Genomic Location (Zv9):
- Chromosome 23 (position 10460482)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 10419284 GRCz11 23 10354254 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGGCAGACATAAATGCACTGAGAAAAATGCTGGATGACACCAATGTGGCA[C/T]GACTCCATCTGGAAAATGATGTTGAAGGATTAAAGGTAGAGCTCATCGAG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa11708
- 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:
- A > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081193 | Essential Splice Site | 220 | 410 | 4 | 7 |
- Genomic Location (Zv9):
- Chromosome 23 (position 10460687)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 10419489 GRCz11 23 10354459 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TAAAGGGGCCTAAGATATAACCCTGTGSAACATCAAATCACCTATTTTTC[A/T]GGAATTGTCAGCACTAWATGGTCAAATTACCCAATCAGGAGTGCAAGTGG
- Associated Phenotype:
- Not determined
Register
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