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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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zgc:112175
- Ensembl ID:
- ENSDARG00000037810
- ZFIN ID:
- ZDB-GENE-050417-220
- Description:
- hypothetical protein LOC550414 [Source:RefSeq peptide;Acc:NP_001017719]
- Human Orthologue:
- C6orf105
- Human Description:
- chromosome 6 open reading frame 105 [Source:HGNC Symbol;Acc:21214]
- Mouse Orthologue:
- 9530008L14Rik
- Mouse Description:
- RIKEN cDNA 9530008L14 gene Gene [Source:MGI Symbol;Acc:MGI:1924596]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa10000 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa10000
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039829 | None | 242 | None | 6 | |
| ENSDART00000111669 | Essential Splice Site | 212 | 456 | 5 | 11 |
The following genes are also affected by this mutation:
- Genomic Location (Zv9):
- Chromosome 23 (position 4405520)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 23 4415544 GRCz11 23 4354445 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GACACCACCAGAAATCCAAGGAAAYATCTACTTCRWCAAGTCCTGAAAAG[G/A]TATCGTATGGCTTTACCTTGCACYAGAGGCTGTTCTTAAAGTATTRAAAG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Orofacial clefts (interaction): Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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