Hs05193094_cn

• Gene Symbol: HPS1
• Assay Reference Genome Location: Chr.10:98418658 on build GRCh38
• Cytoband: 10q24.2

Target Gene Details

• Entrez Gene ID: 3257
• Gene Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
• Gene Aliases: BLOC3S1, HPS
• Location: Chr.10:98415068-98446963 on Build GRCh38
• Assay Gene Location: Within Intron 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPS1	NM_000195.4			NP_000186.2
	NM_001311345.1			NP_001298274.1
	NM_001322476.1			NP_001309405.1
	NM_001322477.1			NP_001309406.1
	NM_001322478.1			NP_001309407.1
	NM_001322479.1			NP_001309408.1
	NM_001322480.1			NP_001309409.1
	NM_001322481.1			NP_001309410.1
	NM_001322482.1			NP_001309411.1
	NM_001322483.1			NP_001309412.1
	NM_001322484.1			NP_001309413.1
	NM_001322485.1			NP_001309414.1
	NM_001322487.1			NP_001309416.1
	NM_001322489.1			NP_001309418.1
	XM_005269757.4			XP_005269814.1
	XM_017016170.1			XP_016871659.1
	XM_017016171.1			XP_016871660.1
	XM_017016172.1			XP_016871661.1
	AL833734.1			CAH56230.1
	U65676.1			AAB17869.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524427	Chr.10:98408615 - 98452617 on Build GRCh38	Loss	LOC101927278 PYROXD2 HPS1 MIR4685
nsv515723	Chr.10:98388419 - 98435072 on Build GRCh38	Loss	PYROXD2 HPS1 MIR1287 MIR4685
nsv831955	Chr.10:98402137 - 98592058 on Build GRCh38	Gain	LOC101927278 PYROXD2 HPS1 MIR4685 HPSE2

More Information

Additional Information:

For this assay, SNP(s) [rs80146893] 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)

lysosome organization
visual perception
response to stimulus

Function(s)

protein binding
protein dimerization activity