Hs00624391_cn

• Gene Symbol: C4orf33
• Assay Reference Genome Location: Chr.4:129093617 on build GRCh38
• Cytoband: 4q28.2

Target Gene Details

• Entrez Gene ID: 132321
• Gene Name: chromosome 4 open reading frame 33
• Gene Aliases: -
• Location: Chr.4:129093674-129112688 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C4orf33	NM_173487.2			NP_775758.2
	AK091022.1			BAC03568.1
	BP871612.1

Target Gene Details

• Entrez Gene ID: 132320
• Gene Name: sodium channel and clathrin linker 1
• Gene Aliases: CAP-1A, CAP1A
• Location: Chr.4:128875206-129093607 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCLT1	NM_001300897.1			NP_001287826.1
	NM_001300898.1			NP_001287827.1
	NM_144643.3			NP_653244.2
	XM_017007716.1			XP_016863205.1
	XM_017007717.1			XP_016863206.1
	XM_017007718.1			XP_016863207.1
	AK055217.1			BAB70876.1
	CD691962.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv822718	Chr.4:129093216 - 129093671 on Build GRCh38	Gain	SCLT1

More Information

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

Gene Ontology Categories:

Process(es)

cilium assembly
clustering of voltage-gated sodium channels

Function(s)

protein binding
protein C-terminus binding
sodium channel regulator activity
clathrin binding