Product Details

Assay Reference Genome
Location

Chr.22:26452501 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	3527	NP_071364.4
	NM_152841.2	12	3144	NP_690054.1
	NR_073135.1	14	3545
	NR_073136.1	13	3307
	XM_006724353.3	15	3572	XP_006724416.1
	XM_006724354.3	15	3477	XP_006724417.1
	XM_006724360.3	10	2755	XP_006724423.1
	XM_011530485.1	16	3650	XP_011528787.1
	XM_011530486.2	16	3555	XP_011528788.1
	XM_011530487.2	17	3760	XP_011528789.1
	XM_011530488.2	16	3558	XP_011528790.1
	XM_011530489.2	17	3661	XP_011528791.1
	XM_011530490.2	15	3596	XP_011528792.1
	XM_011530492.1			XP_011528794.1
	XM_011530493.2	14	3408	XP_011528795.1
	XM_011530494.2	14	2946	XP_011528796.1
	XM_011530495.2	8	2452	XP_011528797.1
	XM_011530496.2	9	2287	XP_011528798.1
	XM_017029042.1	14	3423	XP_016884531.1
	XM_017029043.1	15	3628	XP_016884532.1
	XM_017029044.1	14	3426	XP_016884533.1
	XM_017029045.1			XP_016884534.1
	XM_017029046.1	14	4086	XP_016884535.1
	XM_017029047.1	13	3354	XP_016884536.1
	XM_017029048.1			XP_016884537.1
	XM_017029049.1			XP_016884538.1
	XM_017029050.1	12	3276	XP_016884539.1
	XM_017029051.1	12	3181	XP_016884540.1
	XM_017029052.1	15	3681	XP_016884541.1
	XM_017029053.1	7	3040	XP_016884542.1
	XM_017029054.1	14	3627	XP_016884543.1
	XM_017029055.1	14	3481	XP_016884544.1
	XM_017029056.1	15	3694	XP_016884545.1
	XM_017029057.1	15	3543	XP_016884546.1
	XM_017029058.1	15	3577	XP_016884547.1
	XM_017029059.1	15	3452	XP_016884548.1
	XM_017029060.1	15	3451	XP_016884549.1
	XM_017029061.1	15	3652	XP_016884550.1
	XM_017029062.1	13	3427	XP_016884551.1
	XM_017029063.1	15	3561	XP_016884552.1
	XM_017029064.1	13	3310	XP_016884553.1
	AB051454.1	13	5717	BAB33337.1
	AK057648.1			BAB71540.1
	AK095406.1	4	2064
	AK097529.1	2	932
	AK123691.1	9	3254
	AL365512.1	12	3048	CAB97208.1
	AL713795.1	14	3476	CAD28549.1
	AY043416.1	13	3047	AAK95330.1
	BC065030.1	13	3249	AAH65030.1

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