Product Details

Assay Reference Genome
Location

Chr.22:26444421 on build GRCh38

Cytoband

22q12.1

Species

Homo sapiens

Variation Type

Copy Number

Additional Information

Target Gene Details

Entrez Gene ID

57168

Gene Symbol

ASPHD2

Gene Name

aspartate beta-hydroxylase domain containing 2

Gene Aliases

Location

Chr.22:26429314-26445012 on build GRCh38

Assay Gene Location

Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
ASPHD2	NM_020437.4	4	2722	NP_065170.2
	AK097157.1	3	2067
	AL161993.1	3	1778	CAB82325.1

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 18

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
HPS4	XM_011530492.1	16	3020	XP_011528794.1
	XM_017029045.1	15	2966	XP_016884534.1
	XM_017029048.1	14	2888	XP_016884537.1
	XM_017029049.1	14	2793	XP_016884538.1

View Full Product Details