Product Details

Assay Reference Genome
Location

Chr.22:26453212 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 Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
HPS4	NM_022081.5	14	2816	NP_071364.4
	NM_152841.2	12	2433	NP_690054.1
	NR_073135.1	14	2834
	NR_073136.1	13	2596
	XM_006724353.3	15	2861	XP_006724416.1
	XM_006724354.3	15	2766	XP_006724417.1
	XM_006724360.3	10	2044	XP_006724423.1
	XM_011530485.1	16	2939	XP_011528787.1
	XM_011530486.2	16	2844	XP_011528788.1
	XM_011530487.2	17	3049	XP_011528789.1
	XM_011530488.2	16	2847	XP_011528790.1
	XM_011530489.2	17	2950	XP_011528791.1
	XM_011530490.2	15	2885	XP_011528792.1
	XM_011530492.1			XP_011528794.1
	XM_011530493.2	14	2697	XP_011528795.1
	XM_011530494.2	14	2235	XP_011528796.1
	XM_011530495.2	8	1741	XP_011528797.1
	XM_011530496.2	9	1576	XP_011528798.1
	XM_017029042.1	14	2712	XP_016884531.1
	XM_017029043.1	15	2917	XP_016884532.1
	XM_017029044.1	14	2715	XP_016884533.1
	XM_017029045.1			XP_016884534.1
	XM_017029046.1	14	3375	XP_016884535.1
	XM_017029047.1	13	2643	XP_016884536.1
	XM_017029048.1			XP_016884537.1
	XM_017029049.1			XP_016884538.1
	XM_017029050.1	12	2565	XP_016884539.1
	XM_017029051.1	12	2470	XP_016884540.1
	XM_017029052.1	15	2970	XP_016884541.1
	XM_017029053.1	7	2329	XP_016884542.1
	XM_017029054.1	14	2916	XP_016884543.1
	XM_017029055.1	14	2770	XP_016884544.1
	XM_017029056.1	15	2983	XP_016884545.1
	XM_017029057.1	15	2832	XP_016884546.1
	XM_017029058.1	15	2866	XP_016884547.1
	XM_017029059.1	15	2741	XP_016884548.1
	XM_017029060.1	15	2740	XP_016884549.1
	XM_017029061.1	15	2941	XP_016884550.1
	XM_017029062.1	13	2716	XP_016884551.1
	XM_017029063.1	15	2850	XP_016884552.1
	XM_017029064.1	13	2599	XP_016884553.1
	AB051454.1	13	5006	BAB33337.1
	AK054717.1	9	2672
	AK057648.1			BAB71540.1
	AK095406.1	4	1353
	AK097529.1	2	221
	AK123691.1	9	2543
	AK290211.1	14	2736
	AL365512.1	12	2337	CAB97208.1
	AL713795.1	14	2765	CAD28549.1
	AY043416.1	13	2336	AAK95330.1
	BC065030.1	13	2538	AAH65030.1
	CR456392.1	13	2237	CAG30278.1

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