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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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camk2a
- Ensembl ID:
- ENSDARG00000053617
- ZFIN ID:
- ZDB-GENE-051113-72
- Description:
- calcium/calmodulin-dependent protein kinase type II subunit alpha [Source:RefSeq peptide;Acc:NP_001
- Human Orthologue:
- CAMK2A
- Human Description:
- calcium/calmodulin-dependent protein kinase II alpha [Source:HGNC Symbol;Acc:1460]
- Mouse Orthologue:
- Camk2a
- Mouse Description:
- calcium/calmodulin-dependent protein kinase II alpha Gene [Source:MGI Symbol;Acc:MGI:88256]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa43723 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa10214 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa43723
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039571 | Essential Splice Site | 210 | 555 | 6 | 18 |
| ENSDART00000039571 | Essential Splice Site | 210 | 555 | 6 | 18 |
- Genomic Location (Zv9):
- Chromosome 21 (position 42477940)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 21 43931591 GRCz11 21 43926757 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGGCTGTACTTCATTGCCATCAGATGGGTGTTGTGCACAGAGACTTAAAG[G/A]TAATTCAGCACTAAAATATGTCTTTAAGCATGTTTTTAGAGCACAATTGT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa10214
- 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 > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039571 | Essential Splice Site | 210 | 555 | 6 | 18 |
| ENSDART00000039571 | Essential Splice Site | 210 | 555 | 6 | 18 |
- Genomic Location (Zv9):
- Chromosome 21 (position 42477940)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 21 43931591 GRCz11 21 43926757 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGGCWGTACTTCATTGCCATCAGATGGGTGTTGTKCACAGAGACTTAAAG[G/T]TAATTCAGCACTANNNNNNNNNNNAAATATGTCTTTAAGCATGTTTTTAGAGCACAATTGT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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