LOC568788

Ensembl ID:
ENSDARG00000060127
Human Orthologue:
ADAMTS3
Human Description:
ADAM metallopeptidase with thrombospondin type 1 motif, 3 [Source:HGNC Symbol;Acc:219]
Mouse Orthologue:
Adamts3
Mouse Description:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3 Gene [

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9777 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9777
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000084411 Essential Splice Site 582 1071 13 23
Genomic Location:
Chromosome 5 (position 47073491)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTGTGGGATGGGTGTKCGCTTCAGAMCCCGCCAGTGCAACAACCCTGTG[T/C]AGGTTATACACTGATTTCACAGTCAGGATTGCTAKRAACACTTACTAAKA
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/l53wyxjx