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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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tmem195
- Ensembl ID:
- ENSDARG00000025595
- ZFIN ID:
- ZDB-GENE-040426-2207
- Description:
- Alkylglycerol monooxygenase [Source:UniProtKB/Swiss-Prot;Acc:Q6NYE4]
- Human Orthologue:
- TMEM195
- Human Description:
- transmembrane protein 195 [Source:HGNC Symbol;Acc:33784]
- Mouse Orthologue:
- Tmem195
- Mouse Description:
- transmembrane protein 195 Gene [Source:MGI Symbol;Acc:MGI:2442495]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa22691 | Nonsense | Mutation detected in F1 DNA | During 2015 |
Mutation Details
- Allele Name:
- sa22691
- 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 2015.
- Mutation:
- G > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000034746 | Nonsense | 58 | 446 | 2 | 13 |
| ENSDART00000139934 | Nonsense | 42 | 330 | 2 | 10 |
| ENSDART00000147582 | Nonsense | 70 | 458 | 2 | 13 |
- Genomic Location:
- Chromosome 15 (position 33700782)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GCCACGCCATATTTCATTGGCTTGATATTATTGGAGATTGTGTTGGGCTG[G/A]TTAAAGACAGATGGCCCTCACATTAAGATCAACGACTTCATTACGTCTTT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Fasting insulin-related traits: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (View Study)
- Metabolic syndrome: Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:
- Connect with us:
Wellcome Trust Sanger Institute, Genome Research Limited (reg no. 2742969) is a charity registered in England with number 1021457
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