Hs04912419_cn

• Gene Symbol: SMAP1
• Assay Reference Genome Location: Chr.6:70686469 on build GRCh38
• Cytoband: 6q13

Target Gene Details

• Entrez Gene ID: 60682
• Gene Name: small ArfGAP 1
• Gene Aliases: SMAP-1
• Location: Chr.6:70667771-70862015 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAP1	NM_001044305.2			NP_001037770.1
	NM_001281439.1			NP_001268368.1
	NM_001281440.1			NP_001268369.1
	NM_021940.4			NP_068759.2
	XM_005248760.4			XP_005248817.1
	XM_011536045.2			XP_011534347.1
	XM_011536046.2			XP_011534348.1
	XM_011536047.2			XP_011534349.1
	XM_011536048.2			XP_011534350.1
	XM_017011170.1			XP_016866659.1
	AF442495.1			AAP97320.1
	AK023221.1			BAB14473.1
	AK124239.1
	AK222711.1			BAD96431.1
	AK290448.1
	AK303387.1
	AK307807.1
	AK315579.1
	AY055003.1			AAL14714.1
	AY055004.1			AAL14715.1
	BC008672.2			AAH08672.1
	BC028074.1			AAH28074.1
	BC036123.1			AAH36123.1
	DA527013.1
	DB480952.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524328	Chr.6:70252130 - 70849102 on Build GRCh38	Gain	SMAP1 FAM135A EVADR SDHAF4 COL9A1
nsv1027049	Chr.6:70251907 - 70851785 on Build GRCh38	Gain	SMAP1 FAM135A EVADR SDHAF4 COL9A1

More Information

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

Gene Ontology Categories:

Process(es)

positive regulation of GTPase activity
positive regulation of erythrocyte differentiation
regulation of clathrin-mediated endocytosis

Function(s)

GTPase activator activity
clathrin binding
metal ion binding