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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa10214 Essential Splice Site Available for shipment Available now

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:
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
Genomic Location:
Chromosome 21 (position 42477940)
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:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

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* quick link - http://q.sanger.ac.uk/fg48sgkh