cdkrap3

Ensembl ID:
ENSDARG00000045092
ZFIN ID:
ZDB-GENE-040625-90
Description:
CDK5 regulatory subunit-associated protein 3 [Source:RefSeq peptide;Acc:NP_001002105]
Human Orthologue:
CDK5RAP3
Human Description:
CDK5 regulatory subunit associated protein 3 [Source:HGNC Symbol;Acc:18673]
Mouse Orthologue:
Cdk5rap3
Mouse Description:
CDK5 regulatory subunit associated protein 3 Gene [Source:MGI Symbol;Acc:MGI:1933126]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7362 Missense Mutation detected in F1 DNA During 2016
sa22121 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa7362
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 2016.
Mutation:
C > T
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066304 Missense 146 507 6 14
ENSDART00000133703 Missense 146 509 6 14
Genomic Location (Zv9):
Chromosome 12 (position 30375681)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28712618
KASP Assay ID:
554-4222.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAAGGAAGCAGGTGTCTAAAGCTCAACAGCTGCAGCAGGAGCTGAGCCGA[C/T]GTGAGCTGGAGTGTCAGAGCGGTTCTGCCGACWTGAGAGAACGCTATTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22121
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066304 Nonsense 180 507 7 14
ENSDART00000133703 Nonsense 180 509 7 14
Genomic Location (Zv9):
Chromosome 12 (position 30375857)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28712794
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAACAAATAACATTTGTGTTTCACAGGGGGAAAACGTGGCAAGGGAGTTG[C/T]AAGCACAGGTTAAAGATCTGCCTGTGGTTTTAGAAGAAACTGGAAAAAAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Epilepsy (generalized): Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 (View Study)

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

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