Hs02532208_cn

• Gene Symbol: SMARCAL1
• Assay Reference Genome Location: Chr.2:216413879 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 50485
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
• Gene Aliases: HARP, HHARP
• Location: Chr.2:216412414-216483053 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCAL1	NM_001127207.1			NP_001120679.1
	NM_014140.3			NP_054859.2
	XM_005246631.2			XP_005246688.1
	XM_005246632.1			XP_005246689.1
	XM_017004228.1			XP_016859717.1
	AF082179.1			AAF24984.1
	AF432223.1			AAL73034.1
	AK023780.1
	BC016482.1			AAH16482.1
	BC043341.1			AAH43341.1
	DA856812.1
	DB099423.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524480	Chr.2:216410728 - 216424792 on Build GRCh38	Loss	SMARCAL1
nsv834537	Chr.2:216266174 - 216448640 on Build GRCh38	Loss	SMARCAL1 MARCH4
nsv1005697	Chr.2:216231371 - 216429101 on Build GRCh38	Loss	SMARCAL1 MARCH4
nsv1001603	Chr.2:216327457 - 216442936 on Build GRCh38	Gain	SMARCAL1 MARCH4

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

DNA strand renaturation
DNA metabolic process
regulation of transcription from RNA polymerase II promoter
cellular response to DNA damage stimulus
replication fork processing

Function(s)

helicase activity
protein binding
ATP binding
DNA-dependent ATPase activity
annealing helicase activity