fuca2

Ensembl ID:
ENSDARG00000044073
ZFIN ID:
ZDB-GENE-040822-39
Description:
plasma alpha-L-fucosidase [Source:RefSeq peptide;Acc:NP_001004115]
Human Orthologue:
FUCA2
Human Description:
fucosidase, alpha-L- 2, plasma [Source:HGNC Symbol;Acc:4008]
Mouse Orthologue:
Fuca2
Mouse Description:
fucosidase, alpha-L- 2, plasma Gene [Source:MGI Symbol;Acc:MGI:1914098]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7817 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7817
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064700 Essential Splice Site 238 453 3 7
Genomic Location:
Chromosome 17 (position 6211010)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCAGTACTGGAAMAGCACTGGCTTCCTCGCATGGCTTTACAATCAGAGG[T/A]AAGTCTGAGTGTTTAAATWTCCAATGCAAAGTCCATTTCAATCTATAACC
Associated Phenotype:
Not determined

Register

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