Hs00258817_cn

• Gene Symbol: SMARCD1
• Assay Reference Genome Location: Chr.12:50088525 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 6602
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
• Gene Aliases: BAF60A, CRACD1, Rsc6p
• Location: Chr.12:50085200-50100711 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCD1	NM_003076.4			NP_003067.3
	NM_139071.2			NP_620710.2
	XM_005269107.3			XP_005269164.2
	XM_011538695.1			XP_011536997.1
	AF109733.1			AAD23390.1
	AK130517.1
	AK292700.1
	AK293932.1
	BC009368.2
	CN272379.1
	DA825057.1
	U66617.1			AAC50695.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv558840	Chr.12:50056193 - 50130181 on Build GRCh38	Loss	CERS5 SMARCD1 GPD1 COX14 ASIC1

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
regulation of transcription from RNA polymerase II promoter
nervous system development
covalent chromatin modification
chromatin-mediated maintenance of transcription
cellular response to fatty acid

Function(s)

chromatin binding
transcription coactivator activity
receptor binding
protein binding
protein complex scaffold