Product Details

Assay Reference Genome
Location

Chr.22:26452935 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	3093	NP_071364.4
	NM_152841.2	12	2710	NP_690054.1
	NR_073135.1	14	3111
	NR_073136.1	13	2873
	XM_006724353.3	15	3138	XP_006724416.1
	XM_006724354.3	15	3043	XP_006724417.1
	XM_006724360.3	10	2321	XP_006724423.1
	XM_011530485.1	16	3216	XP_011528787.1
	XM_011530486.2	16	3121	XP_011528788.1
	XM_011530487.2	17	3326	XP_011528789.1
	XM_011530488.2	16	3124	XP_011528790.1
	XM_011530489.2	17	3227	XP_011528791.1
	XM_011530490.2	15	3162	XP_011528792.1
	XM_011530492.1			XP_011528794.1
	XM_011530493.2	14	2974	XP_011528795.1
	XM_011530494.2	14	2512	XP_011528796.1
	XM_011530495.2	8	2018	XP_011528797.1
	XM_011530496.2	9	1853	XP_011528798.1
	XM_017029042.1	14	2989	XP_016884531.1
	XM_017029043.1	15	3194	XP_016884532.1
	XM_017029044.1	14	2992	XP_016884533.1
	XM_017029045.1			XP_016884534.1
	XM_017029046.1	14	3652	XP_016884535.1
	XM_017029047.1	13	2920	XP_016884536.1
	XM_017029048.1			XP_016884537.1
	XM_017029049.1			XP_016884538.1
	XM_017029050.1	12	2842	XP_016884539.1
	XM_017029051.1	12	2747	XP_016884540.1
	XM_017029052.1	15	3247	XP_016884541.1
	XM_017029053.1	7	2606	XP_016884542.1
	XM_017029054.1	14	3193	XP_016884543.1
	XM_017029055.1	14	3047	XP_016884544.1
	XM_017029056.1	15	3260	XP_016884545.1
	XM_017029057.1	15	3109	XP_016884546.1
	XM_017029058.1	15	3143	XP_016884547.1
	XM_017029059.1	15	3018	XP_016884548.1
	XM_017029060.1	15	3017	XP_016884549.1
	XM_017029061.1	15	3218	XP_016884550.1
	XM_017029062.1	13	2993	XP_016884551.1
	XM_017029063.1	15	3127	XP_016884552.1
	XM_017029064.1	13	2876	XP_016884553.1
	AB051454.1	13	5283	BAB33337.1
	AK057648.1			BAB71540.1
	AK095406.1	4	1630
	AK097529.1	2	498
	AK123691.1	9	2820
	AL365512.1	12	2614	CAB97208.1
	AL713795.1	14	3042	CAD28549.1
	AY043416.1	13	2613	AAK95330.1
	BC065030.1	13	2815	AAH65030.1

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