LOC100001721

Ensembl ID:
ENSDARG00000091792
Human Orthologue:
AKAP12
Human Description:
A kinase (PRKA) anchor protein 12 [Source:HGNC Symbol;Acc:370]
Mouse Orthologue:
Akap12
Mouse Description:
A kinase (PRKA) anchor protein (gravin) 12 Gene [Source:MGI Symbol;Acc:MGI:1932576]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa17436 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17436
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128341 Nonsense 2106 3023 3 3
Genomic Location:
Chromosome 17 (position 7619377)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTCAACTCCTGTTTCAGTGCTTGATGCACCAGCTGTAACCCCAGTGGTT[C/T]AAACACCAGGCCAGGGTTCAGCCAGKGTAATAGAGACTTYACCTTTACCA
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/.)

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