Product Details

Assay Reference Genome Location: Chr.22:33178234 on build GRCh38
Cytoband: 22q12.3
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

For this assay, SNP(s) [rs77288444] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Target Gene Details

Entrez Gene ID: 9215
Gene Symbol: LARGE1
Gene Name: LARGE xylosyl- and glucuronyltransferase 1
Gene Aliases: LARGE, MDC1D, MDDGA6, MDDGB6
Location: Chr.22:33162237-33922841 on build GRCh38
Assay Gene Location

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
LARGE1

Target Copy Number Variation Details

DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3893476	Chr22:33163488 - 33370369 on Build GRCh38	Gain	LARGE1
esv3568374	Chr22:33152451 - 33186805 on Build GRCh38	Loss	LARGE1
nsv1056019	Chr22:33131887 - 33261303 on Build GRCh38	Gain	LARGE1

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