Product Details

Assay Reference Genome
Location

Chr.22:26452397 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	3631	NP_071364.4
	NM_152841.2	12	3248	NP_690054.1
	NR_073135.1	14	3649
	NR_073136.1	13	3411
	XM_006724353.3	15	3676	XP_006724416.1
	XM_006724354.3	15	3581	XP_006724417.1
	XM_006724360.3	10	2859	XP_006724423.1
	XM_011530485.1	16	3754	XP_011528787.1
	XM_011530486.2	16	3659	XP_011528788.1
	XM_011530487.2	17	3864	XP_011528789.1
	XM_011530488.2	16	3662	XP_011528790.1
	XM_011530489.2	17	3765	XP_011528791.1
	XM_011530490.2	15	3700	XP_011528792.1
	XM_011530492.1			XP_011528794.1
	XM_011530493.2	14	3512	XP_011528795.1
	XM_011530494.2	14	3050	XP_011528796.1
	XM_011530495.2	8	2556	XP_011528797.1
	XM_011530496.2	9	2391	XP_011528798.1
	XM_017029042.1	14	3527	XP_016884531.1
	XM_017029043.1	15	3732	XP_016884532.1
	XM_017029044.1	14	3530	XP_016884533.1
	XM_017029045.1			XP_016884534.1
	XM_017029046.1	14	4190	XP_016884535.1
	XM_017029047.1	13	3458	XP_016884536.1
	XM_017029048.1			XP_016884537.1
	XM_017029049.1			XP_016884538.1
	XM_017029050.1	12	3380	XP_016884539.1
	XM_017029051.1	12	3285	XP_016884540.1
	XM_017029052.1	15	3785	XP_016884541.1
	XM_017029053.1	7	3144	XP_016884542.1
	XM_017029054.1	14	3731	XP_016884543.1
	XM_017029055.1	14	3585	XP_016884544.1
	XM_017029056.1	15	3798	XP_016884545.1
	XM_017029057.1	15	3647	XP_016884546.1
	XM_017029058.1	15	3681	XP_016884547.1
	XM_017029059.1	15	3556	XP_016884548.1
	XM_017029060.1	15	3555	XP_016884549.1
	XM_017029061.1	15	3756	XP_016884550.1
	XM_017029062.1	13	3531	XP_016884551.1
	XM_017029063.1	15	3665	XP_016884552.1
	XM_017029064.1	13	3414	XP_016884553.1
	AB051454.1	13	5821	BAB33337.1
	AK057648.1			BAB71540.1
	AK095406.1	4	2168
	AK097529.1	2	1036
	AK123691.1	9	3358
	AL365512.1	12	3152	CAB97208.1
	AL713795.1	14	3580	CAD28549.1
	AY043416.1	13	3151	AAK95330.1
	BC065030.1	13	3353	AAH65030.1

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