furina

Ensembl ID:
ENSDARG00000062909
ZFIN IDs:
ZDB-GENE-040901-1, ZDB-GENE-040901-1
Description:
furin A [Source:RefSeq peptide;Acc:NP_001038571]
Human Orthologue:
FURIN
Human Description:
furin (paired basic amino acid cleaving enzyme) [Source:HGNC Symbol;Acc:8568]
Mouse Orthologue:
Furin
Mouse Description:
furin (paired basic amino acid cleaving enzyme) Gene [Source:MGI Symbol;Acc:MGI:97513]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9922 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9922
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091468 Nonsense 411 713 13 16
ENSDART00000091470 Nonsense 504 806 12 15
Genomic Location:
Chromosome 7 (position 15063550)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAAGCGCAGCTGACMCTGTCCTACAACCGCAGAGGAAACCTGGCYATCTA[T/A]CWGATCAGCCCACAGGGGACCCGCTCCACACTGCTTCCTCCCAGGTWAAA
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/q0e53mf8