Hs00727143_cn

• Gene Symbol: SMARCD2
• Assay Reference Genome Location: Chr.17:63832506 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: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCD2	NM_001098426.1	13	2345	NP_001091896.1
	XM_005257604.2	13	1892	XP_005257661.2
	XM_017024967.1	13	3084	XP_016880456.1
	AF113019.1	3	681	AAF20280.1
	AK025917.1	5	909
	AK303951.1
	BC018953.2	3	669	AAH18953.2
	BC136322.1
	BC142963.1	13	2294

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	GH2 FTSJ3 DDX42 PSMC5 CSH2 GH1 CSH1 TCAM1P LOC107987248 CCDC47 CSHL1 SMARCD2
nsv517272	Chr.17:63814307 - 64020132 on Build GRCh38	Gain+Loss	PRR29-AS1 DDX42 CSH2 TCAM1P SCN4A CSHL1 GH2 FTSJ3 CD79B PRR29 PSMC5 GH1 CSH1 LOC107987248 ICAM2 SMARCD2
nsv510720	Chr.17:63809351 - 63908780 on Build GRCh38	Deletion	GH2 FTSJ3 DDX42 PSMC5 CSH2 CSH1 TCAM1P LOC107987248 SMARCD2

More Information

• Set Membership: Intragenic, 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