MAGI2 (1 of 3)

Ensembl ID:
ENSDARG00000073769
Description:
membrane associated guanylate kinase, WW and PDZ domain containing 2 [Source:HGNC Symbol;Acc:18957]
Human Orthologue:
MAGI2
Human Description:
membrane associated guanylate kinase, WW and PDZ domain containing 2 [Source:HGNC Symbol;Acc:18957]
Mouse Orthologue:
Magi2
Mouse Description:
membrane associated guanylate kinase, WW and PDZ domain containing 2 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa5103 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa5103
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
ENSDART00000110879 Essential Splice Site 189 543 4 9
Genomic Location:
Chromosome 25 (position 21494370)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTCGATTAGCGAAGAAAGCTAAACCTCCAGAGGAGTGTGAGGAAGATGG[T/A]GAGTGTGTTACTGTAACACAAGCGYGYGCGTGTGTGCTTTAYACTGCACT
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/2mca1wgw