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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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zgc:112101
- Ensembl ID:
- ENSDARG00000042214
- ZFIN ID:
- ZDB-GENE-050417-264
- Description:
- hypothetical protein LOC550443 [Source:RefSeq peptide;Acc:NP_001017748]
- Human Orthologue:
- C7orf23
- Human Description:
- chromosome 7 open reading frame 23 [Source:HGNC Symbol;Acc:21707]
- Mouse Orthologue:
- 4930420K17Rik
- Mouse Description:
- RIKEN cDNA 4930420K17 gene Gene [Source:MGI Symbol;Acc:MGI:3606159]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa7301 | Essential Splice Site, Missense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa7301
- 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:
- A > G
- Consequence:
- Essential Splice Site, Missense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061904 | Essential Splice Site | 39 | 148 | None | 5 |
| ENSDART00000134827 | Missense | 45 | 119 | 2 | 4 |
| ENSDART00000142866 | Missense | 5 | 114 | 1 | 4 |
| ENSDART00000147467 | Missense | 45 | 154 | 2 | 5 |
- Genomic Location (Zv9):
- Chromosome 18 (position 8377564)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 8954942 GRCz11 18 8912961 - KASP Assay ID:
- 554-4577.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TGTGAAATATAAAACCAACTTTACCTTAATCCAGAAACATGGATGATTTC[A/G]GGACGCGCTCCAGTGGGACACACAACACGCTGCTCGGAGAGACTTTCACA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Bipolar disorder and major depressive disorder (combined): Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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