Hs07009541_cn

• Gene Symbol: RILPL1
• Assay Reference Genome Location: Chr.12:123491380 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 353116
• Gene Name: Rab interacting lysosomal protein like 1
• Gene Aliases: GOSPEL, RLP1
• Location: Chr.12:123471073-123533718 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RILPL1	NM_001319243.1			NP_001306172.1
	NM_001319244.1			NP_001306173.1
	NM_001319302.1			NP_001306231.1
	NM_178314.4			NP_847884.2
	XM_006719372.2			XP_006719435.1
	XM_006719373.3			XP_006719436.1
	XM_011538282.2			XP_011536584.1
	XM_011538284.2			XP_011536586.1
	XM_011538285.2			XP_011536587.1
	AK096697.1			BAC04845.1
	BC080626.1			AAH80626.1
	BC089444.1			AAH89444.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1037260	Chr.12:123472202 - 123538522 on Build GRCh38	Gain	MIR3908 RILPL1 SNRNP35

More Information

Additional Information:

For this assay, SNP(s) [rs73412263] 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.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

epithelial cell morphogenesis
regulation of neuron death
protein transport from ciliary membrane to plasma membrane