LOC562406

Ensembl ID:
ENSDARG00000053460
Human Orthologue:
VWC2
Human Description:
von Willebrand factor C domain containing 2 [Source:HGNC Symbol;Acc:30200]
Mouse Orthologue:
Vwc2
Mouse Description:
von Willebrand factor C domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2442987]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9975 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9975
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075499 Essential Splice Site 161 242 2 3
Genomic Location:
Chromosome 3 (position 33570595)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTAAATCCTGTATACGAACCCAACCATTGCTGTCCGGTGTGCAAAAGTG[G/A]TAAGAGTTTACACATGCAACATCACATGTGCATTAACAATTTACCCAATT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/vpur7xdj