Hs06453864_cn

• Gene Symbol: TWSG1
• Assay Reference Genome Location: Chr.18:9357904 on build GRCh38
• Cytoband: 18p11.22

Target Gene Details

• Entrez Gene ID: 57045
• Gene Name: twisted gastrulation BMP signaling modulator 1
• Gene Aliases: TSG
• Location: Chr.18:9334767-9402420 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TWSG1	NM_020648.5			NP_065699.1
	AF196834.1			AAG43468.1
	AF294628.1			AAG10076.1
	AJ297391.1			CAC05581.1
	AK027629.1			BAB55246.1
	AK075550.1			BAC11693.1
	AK315751.1
	BC020490.1			AAH20490.1
	DA735800.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1056407	Chr.18:9144347 - 9553766 on Build GRCh38	Gain	RALBP1 TWSG1 ANKRD12 PPP4R1

More Information

Additional Information:

For this assay, SNP(s) [rs77323048] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

ossification
mesoderm formation
salivary gland morphogenesis
hemopoiesis
cell differentiation
BMP signaling pathway
positive regulation of BMP signaling pathway
negative regulation of BMP signaling pathway
forebrain development
camera-type eye development
negative regulation of osteoblast differentiation

Function(s)

protein binding