Hs06922508_cn

• Gene Symbol: SAXO1
• Assay Reference Genome Location: Chr.9:18949882 on build GRCh38
• Cytoband: 9p22.1

Target Gene Details

• Entrez Gene ID: 158297
• Gene Name: stabilizer of axonemal microtubules 1
• Gene Aliases: C9orf138, FAM154A
• Location: Chr.9:18927660-19049354 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAXO1	NM_001287049.1			NP_001273978.1
	NM_001287050.1			NP_001273979.1
	NM_153707.3			NP_714918.2
	XM_011517744.1			XP_011516046.1
	XM_011517745.1			XP_011516047.1
	XM_011517746.2			XP_011516048.1
	XM_017014314.1			XP_016869803.1
	XM_017014315.1			XP_016869804.1
	AK057474.1
	AK292245.1
	BC033489.1			AAH33489.1
	BM563230.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv525659	Chr.9:18288214 - 19009043 on Build GRCh38	Gain	ADAMTSL1 SAXO1 MIR3152
esv3619882	Chr.9:18831160 - 18952565 on Build GRCh38	Gain	ADAMTSL1 SAXO1
nsv471289	Chr.9:18920359 - 18960395 on Build GRCh38	Loss	SAXO1

More Information

Additional Information:

For this assay, SNP(s) [rs115752796] 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)

cold acclimation
cell projection organization
positive regulation of cilium assembly
cellular response to cold

Function(s)

protein binding
microtubule binding