Name: [Hs00757589_cn] [AP2S1]
Creator: Thermo Fisher Scientific
Keywords: [AP2S1] Assay, [adaptor related protein complex 2 sigma 1 subunit] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	1175
Gene Name:	adaptor related protein complex 2 sigma 1 subunit
Gene Aliases:	AP17, CLAPS2, FBH3, FBHOk, HHC3
Location:	Chr.19:46838158-46850995 on Build GRCh38
Assay Gene Location:	Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP2S1	NM_001301076.1	5	671	NP_001288005.1
	NM_001301078.1	5	788	NP_001288007.1
	NM_001301081.1	5	628	NP_001288010.1
	NM_004069.4	5	746	NP_004060.2
	NM_021575.3	4	632	NP_067586.1
	XM_011526423.2	5	724	XP_011524725.1
	XM_011526424.2	5	619	XP_011524726.1
	AI139089.1	1	220
	BC006337.2	5	555	AAH06337.1
	BG282225.1	5	596
	BI561502.1
	BQ221562.1	5	671
	BQ684675.1	2	221
	CA454481.1	5	661
	X97074.1	5	631	CAA65782.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833850	Chr.19:46703285 - 46867053 on Build GRCh38	Loss	AP2S1 PRKD2 ARHGAP35 SNAR-E STRN4 LOC107987269 FKRP MIR320E SLC1A5
dgv3608n100	Chr.19:46757741 - 46865807 on Build GRCh38	Gain	AP2S1 ARHGAP35 SNAR-E FKRP SLC1A5
esv3893224	Chr.19:46783912 - 46911729 on Build GRCh38	Gain	AP2S1 ARHGAP35 SNAR-E SLC1A5