Product Details

Assay Reference Genome
Location

Chr.22:26456035 on build GRCh38

Cytoband

22q12.1

Species

Homo sapiens

Variation Type

Copy Number

Additional Information

Target Gene Details

Entrez Gene ID

89781

Gene Symbol

HPS4

Gene Name

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

Gene Aliases

BLOC3S2, LE

Location

Chr.22:26443613-26483863 on build GRCh38

Assay Gene Location

Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
HPS4	NM_022081.5			NP_071364.4
	NM_152841.2			NP_690054.1
	NR_073135.1
	NR_073136.1
	XM_006724353.3			XP_006724416.1
	XM_006724354.3			XP_006724417.1
	XM_006724360.3			XP_006724423.1
	XM_011530485.1			XP_011528787.1
	XM_011530486.2			XP_011528788.1
	XM_011530487.2			XP_011528789.1
	XM_011530488.2			XP_011528790.1
	XM_011530489.2			XP_011528791.1
	XM_011530490.2			XP_011528792.1
	XM_011530491.2			XP_011528793.1
	XM_011530492.1			XP_011528794.1
	XM_011530493.2			XP_011528795.1
	XM_011530494.2			XP_011528796.1
	XM_011530495.2			XP_011528797.1
	XM_011530496.2			XP_011528798.1
	XM_017029042.1			XP_016884531.1
	XM_017029043.1			XP_016884532.1
	XM_017029044.1			XP_016884533.1
	XM_017029045.1			XP_016884534.1
	XM_017029046.1			XP_016884535.1
	XM_017029047.1			XP_016884536.1
	XM_017029048.1			XP_016884537.1
	XM_017029049.1			XP_016884538.1
	XM_017029050.1			XP_016884539.1
	XM_017029051.1			XP_016884540.1
	XM_017029052.1			XP_016884541.1
	XM_017029053.1			XP_016884542.1
	XM_017029054.1			XP_016884543.1
	XM_017029055.1			XP_016884544.1
	XM_017029056.1			XP_016884545.1
	XM_017029057.1			XP_016884546.1
	XM_017029058.1			XP_016884547.1
	XM_017029059.1			XP_016884548.1
	XM_017029060.1			XP_016884549.1
	XM_017029061.1			XP_016884550.1
	XM_017029062.1			XP_016884551.1
	XM_017029063.1			XP_016884552.1
	XM_017029064.1			XP_016884553.1
	AB051454.1			BAB33337.1
	AK054717.1
	AK057648.1			BAB71540.1
	AK095406.1
	AK097529.1
	AK123691.1
	AK290211.1
	AL365512.1			CAB97208.1
	AL713795.1			CAD28549.1
	AY043416.1			AAK95330.1
	BC065030.1			AAH65030.1
	CR456392.1			CAG30278.1

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