RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

SLC46A1

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1 unique mutation(s) annotated from 1 PubMed(s)

Sl.No	Mutation type	Genomic level change	CDS level change	RNA level change	Protein level change	Mutation effects	Expt. name	PubMed	Mutation viewer
1	Substitution	g.3889G>A	c.1082-1G>A	r.1082_1165del	p.Tyr362_Gly389del	Exon skipping, Amino acid deletion	Direct sequencing, PCR based assay	Borzutzky A et al., 2009	Click here

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