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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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zgc:91940
- Ensembl ID:
- ENSDARG00000071414
- ZFIN ID:
- ZDB-GENE-040718-418
- Description:
- Uncharacterized protein C17orf62 homolog [Source:UniProtKB/Swiss-Prot;Acc:Q6DGA7]
- Human Orthologue:
- C17orf62
- Human Description:
- chromosome 17 open reading frame 62 [Source:HGNC Symbol;Acc:28672]
- Mouse Orthologue:
- BC017643
- Mouse Description:
- cDNA sequence BC017643 Gene [Source:MGI Symbol;Acc:MGI:2384959]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa42069 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa30962 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa42069
- 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:
- T > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105562 | Essential Splice Site | 101 | 206 | 5 | 7 |
| ENSDART00000105562 | Essential Splice Site | 101 | 206 | 5 | 7 |
- Genomic Location (Zv9):
- Chromosome 12 (position 34951545)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 33355654 GRCz11 12 33456637 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGTCTCTATACCATGTTGTTGACTCTGTGGAAAAGAGGGCACGAGAAAGG[T/C]GAGTTCAGCCTTAGCTGTCATCATTTGTATTTTTTCTTTTGTGAATTATA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa30962
- 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:
- T > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105562 | Essential Splice Site | 101 | 206 | 5 | 7 |
| ENSDART00000105562 | Essential Splice Site | 101 | 206 | 5 | 7 |
- Genomic Location (Zv9):
- Chromosome 12 (position 34951545)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 33355654 GRCz11 12 33456637 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGTCTCTATACCATGTTGTTGACTCTGTGGAAAAGAGGGCACGAGAAAGG[T/C]GAGTTCAGCCTTAGCTGTCATCATTTGTATTTTTTCTTTTGTGAATTATA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Protein quantitative trait loci: A genome-wide association study identifies protein quantitative trait loci (pQTLs). (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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