Hs03879403_cn

• Gene Symbol: AP4S1
• Assay Reference Genome Location: Chr.14:31029028 on build GRCh38
• Cytoband: 14q12

Target Gene Details

• Entrez Gene ID: 11154
• Gene Name: adaptor related protein complex 4 sigma 1 subunit
• Gene Aliases: AP47B, CLA20, CLAPS4, CPSQ6, SPG52
• Location: Chr.14:31025106-31096450 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP4S1	NM_001128126.2			NP_001121598.1
	NM_001254726.1			NP_001241655.1
	NM_001254727.1			NP_001241656.1
	NM_001254728.1			NP_001241657.1
	NM_001254729.1			NP_001241658.1
	NM_007077.4			NP_009008.2
	XM_005267293.4			XP_005267350.1
	XM_011536371.2			XP_011534673.1
	XM_011536372.2			XP_011534674.1
	AB030654.1			BAA82970.1
	AF155159.1			AAD43329.1
	AK304115.1
	AK316517.1
	BC001259.1			AAH01259.1
	BF671561.1
	BG702035.1
	BX247969.1			CAD62307.1
	BX388185.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv564169	Chr.14:30349881 - 31072288 on Build GRCh38	Gain	LOC100506071 G2E3 MIR624 STRN3 SCFD1 COCH AP4S1
nsv1233	Chr.14:31023799 - 31035069 on Build GRCh38	Insertion	STRN3 AP4S1
nsv1049063	Chr.14:31004315 - 31153535 on Build GRCh38	Gain	MIR624 STRN3 AP4S1 HECTD1
esv3892495	Chr.14:30985830 - 31116083 on Build GRCh38	Gain	MIR624 STRN3 AP4S1 HECTD1
esv33189	Chr.14:30331017 - 31442539 on Build GRCh38	Loss	LOC100506071 G2E3 MIR624 STRN3 SCFD1 LOC101927124 COCH HEATR5A AP4S1 HECTD1

More Information

Additional Information:

For this assay, SNP(s) [rs116290315] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

vesicle coat protein

Gene Ontology Categories:

Process(es)

protein transport

Function(s)

transporter activity
protein transporter activity