Product Details

Assay Reference Genome
Location

Chr.22:26453036 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	2992	NP_071364.4
	NM_152841.2	12	2609	NP_690054.1
	NR_073135.1	14	3010
	NR_073136.1	13	2772
	XM_006724353.3	15	3037	XP_006724416.1
	XM_006724354.3	15	2942	XP_006724417.1
	XM_006724360.3	10	2220	XP_006724423.1
	XM_011530485.1	16	3115	XP_011528787.1
	XM_011530486.2	16	3020	XP_011528788.1
	XM_011530487.2	17	3225	XP_011528789.1
	XM_011530488.2	16	3023	XP_011528790.1
	XM_011530489.2	17	3126	XP_011528791.1
	XM_011530490.2	15	3061	XP_011528792.1
	XM_011530492.1			XP_011528794.1
	XM_011530493.2	14	2873	XP_011528795.1
	XM_011530494.2	14	2411	XP_011528796.1
	XM_011530495.2	8	1917	XP_011528797.1
	XM_011530496.2	9	1752	XP_011528798.1
	XM_017029042.1	14	2888	XP_016884531.1
	XM_017029043.1	15	3093	XP_016884532.1
	XM_017029044.1	14	2891	XP_016884533.1
	XM_017029045.1			XP_016884534.1
	XM_017029046.1	14	3551	XP_016884535.1
	XM_017029047.1	13	2819	XP_016884536.1
	XM_017029048.1			XP_016884537.1
	XM_017029049.1			XP_016884538.1
	XM_017029050.1	12	2741	XP_016884539.1
	XM_017029051.1	12	2646	XP_016884540.1
	XM_017029052.1	15	3146	XP_016884541.1
	XM_017029053.1	7	2505	XP_016884542.1
	XM_017029054.1	14	3092	XP_016884543.1
	XM_017029055.1	14	2946	XP_016884544.1
	XM_017029056.1	15	3159	XP_016884545.1
	XM_017029057.1	15	3008	XP_016884546.1
	XM_017029058.1	15	3042	XP_016884547.1
	XM_017029059.1	15	2917	XP_016884548.1
	XM_017029060.1	15	2916	XP_016884549.1
	XM_017029061.1	15	3117	XP_016884550.1
	XM_017029062.1	13	2892	XP_016884551.1
	XM_017029063.1	15	3026	XP_016884552.1
	XM_017029064.1	13	2775	XP_016884553.1
	AB051454.1	13	5182	BAB33337.1
	AK057648.1			BAB71540.1
	AK095406.1	4	1529
	AK097529.1	2	397
	AK123691.1	9	2719
	AK290211.1
	AL365512.1	12	2513	CAB97208.1
	AL713795.1	14	2941	CAD28549.1
	AY043416.1	13	2512	AAK95330.1
	BC065030.1	13	2714	AAH65030.1
	CR456392.1			CAG30278.1

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