Hs01581629_cn

• Gene Symbol: SMARCD2
• Assay Reference Genome Location: Chr.17:63834181 on build GRCh38
• Cytoband: 17q23.3

Target Gene Details

• Entrez Gene ID: 6603
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
• Gene Aliases: BAF60B, CRACD2, PRO2451, Rsc6p
• Location: Chr.17:63832081-63842991 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCD2	NM_001098426.1			NP_001091896.1
	XM_005257604.2			XP_005257661.2
	XM_017024967.1			XP_016880456.1
	AK300939.1
	AK303951.1
	AK307944.1
	BC136322.1
	BC142963.1
	BM463728.1
	U66618.1			AAC50696.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833510	Chr.17:63767293 - 63927790 on Build GRCh38	Loss	TCAM1P DDX42 GH1 FTSJ3 CSH1 CCDC47 CSHL1 LOC107987248 GH2 CSH2 PSMC5 SMARCD2
nsv517272	Chr.17:63814307 - 64020132 on Build GRCh38	Gain+Loss	DDX42 SCN4A CSHL1 LOC107987248 PRR29-AS1 ICAM2 TCAM1P GH1 FTSJ3 CSH1 PRR29 GH2 CSH2 CD79B PSMC5 SMARCD2
nsv510720	Chr.17:63809351 - 63908780 on Build GRCh38	Deletion	TCAM1P DDX42 FTSJ3 CSH1 LOC107987248 GH2 CSH2 PSMC5 SMARCD2

More Information

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

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

nucleosome disassembly
chromatin remodeling
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
covalent chromatin modification
ATP-dependent chromatin remodeling

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
transcription coactivator activity
protein binding
nucleosomal DNA binding