Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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LOC100002134
- Ensembl ID:
- ENSDARG00000054584
- Human Orthologues:
- SLC30A10, SLC30A2, SLC30A3, SLC30A4, SLC30A8
- Human Descriptions:
- solute carrier family 30 (zinc transporter), member 2 [Source:HGNC Symbol;Acc:11013]
- solute carrier family 30 (zinc transporter), member 3 [Source:HGNC Symbol;Acc:11014]
- solute carrier family 30 (zinc transporter), member 4 [Source:HGNC Symbol;Acc:11015]
- solute carrier family 30 (zinc transporter), member 8 [Source:HGNC Symbol;Acc:20303]
- solute carrier family 30, member 10 [Source:HGNC Symbol;Acc:25355]
- Mouse Orthologues:
- Slc30a10, Slc30a2, Slc30a3, Slc30a4, Slc30a8
- Mouse Descriptions:
- solute carrier family 30 (zinc transporter), member 2 Gene [Source:MGI Symbol;Acc:MGI:106637]
- solute carrier family 30 (zinc transporter), member 3 Gene [Source:MGI Symbol;Acc:MGI:1345280]
- solute carrier family 30 (zinc transporter), member 4 Gene [Source:MGI Symbol;Acc:MGI:1345282]
- solute carrier family 30 (zinc transporter), member 8 Gene [Source:MGI Symbol;Acc:MGI:2442682]
- solute carrier family 30, member 10 Gene [Source:MGI Symbol;Acc:MGI:2685058]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa6536 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa6536
- 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 > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000076803 | Essential Splice Site | 228 | 462 | 3 | 3 |
- Genomic Location (Zv9):
- Chromosome 18 (position 47801370)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 48956151 GRCz11 18 48950938 - KASP Assay ID:
- 554-4789.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AAKTTCTGCGTGAACTAACCCCCCTTTATTGTRCTTATTTGTWACCTGCC[A/T]GCACCTCAGTGTGTTYCCCAAGTCTCYATCTTCMGAGWGCATCATCTGGG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Asthma: Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations. (View Study)
- Fasting insulin-related traits: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (View Study)
- Fasting insulin-related traits (interaction with BMI): A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. (View Study)
- Glycated hemoglobin levels: Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. (View Study)
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
- Proinsulin levels: Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (View Study)
- Response to fenofibrate (adiponectin levels): Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. (View Study)
- Type 2 diabetes: A genome-wide association study identifies novel risk loci for type 2 diabetes. (View Study)
- Type 2 diabetes: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. (View Study)
- Type 2 diabetes: A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. (View Study)
- Type 2 diabetes: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. (View Study)
- Type 2 diabetes: Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. (View Study)
- Type 2 diabetes: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. (View Study)
- Type 2 diabetes: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. (View Study)
- Type 2 diabetes: Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. (View Study)
- Type 2 diabetes: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. (View Study)
- Type 2 diabetes and other traits: Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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