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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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ENSDARG00000078168
- Ensembl ID:
- ENSDARG00000078168
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa43355 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa23608 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa43355
- 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 |
|---|---|---|---|---|---|
| ENSDART00000109480 | Nonsense | 237 | 538 | 1 | 2 |
- Genomic Location (Zv9):
- Chromosome 19 (position 50089526)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 19 48579526 GRCz11 19 48238920 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CTCAAATGTCCACCTCTTCCATCCCTCAGGGTTCCTCCTCTTCTGTTCCC[C/T]AAATTTCCACCTCTTCCATCCCTCAGAGTTCCTCCTCTTCTGTTCCCCAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa23608
- 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 > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109480 | Nonsense | 506 | 538 | 2 | 2 |
- Genomic Location (Zv9):
- Chromosome 19 (position 50088700)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 19 48580352 GRCz11 19 48239746 - KASP Assay ID:
- 2261-3777.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GTCGAATATACCTTTATCTCCATCAGCTCGAGCATACACTATCATTAAGT[C/A]AACCAAAGTAGTCACCTTTGACCTTTCAGGTCCCTCAGACCACATCAGCT
- Associated Phenotype:
- Not determined
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