ENSDARG00000086667

Ensembl ID:
ENSDARG00000086667
Human Orthologue:
PCSK5
Human Description:
proprotein convertase subtilisin/kexin type 5 [Source:HGNC Symbol;Acc:8747]
Mouse Orthologue:
Pcsk5
Mouse Description:
proprotein convertase subtilisin/kexin type 5 Gene [Source:MGI Symbol;Acc:MGI:97515]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24720 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24720
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128366 Essential Splice Site 625 983 11 16
Genomic Location:
Chromosome 25 (position 35512133)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTGGACCCTTTGACTGCCAGACTTGTGCCCTGCCCAACTTTCTCAACAG[T/C]ATGAATGAATGCCACTTTATTTACTGCTATGAAAACTTTATTGATTTTGA
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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* quick link - http://q.sanger.ac.uk/nbzzzzdl