Hs05762111_cn

• Gene Symbol: SPATA6
• Assay Reference Genome Location: Chr.1:48293824 on build GRCh38
• Cytoband: 1p33

Target Gene Details

• Entrez Gene ID: 54558
• Gene Name: spermatogenesis associated 6
• Gene Aliases: HASH, SRF-1, SRF1
• Location: Chr.1:48258643-48472208 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA6	XM_006710699.2			XP_006710762.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3585965	Chr.1:48282463 - 48313854 on Build GRCh38	Loss	SPATA6
esv2762139	Chr.1:48279401 - 48310271 on Build GRCh38	Loss	SPATA6
nsv1011588	Chr.1:48248029 - 48328196 on Build GRCh38	Gain	SLC5A9 SPATA6
esv3578249	Chr.1:48202315 - 48332128 on Build GRCh38	Gain	SLC5A9 SPATA6
nsv508182	Chr.1:48264259 - 48353795 on Build GRCh38	Deletion	SPATA6

More Information

Additional Information:

For this assay, SNP(s) [rs72887987] 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)

multicellular organism development
spermatogenesis
cell differentiation
motile cilium assembly

Function(s)

myosin light chain binding