Hs06563120_cn

• Gene Symbol: SPATA6
• Assay Reference Genome Location: Chr.1:48343536 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 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA6	NM_001286238.1			NP_001273167.1
	NM_001286239.1			NP_001273168.1
	NM_019073.3			NP_061946.1
	XM_006710699.2			XP_006710762.1
	XM_006710700.2			XP_006710763.1
	XM_011541606.1			XP_011539908.1
	XM_011541607.2			XP_011539909.1
	XM_011541608.1			XP_011539910.1
	XM_011541609.2			XP_011539911.1
	XM_017001510.1			XP_016856999.1
	XM_017001511.1			XP_016857000.1
	XM_017001512.1			XP_016857001.1
	XM_017001513.1			XP_016857002.1
	XM_017001514.1			XP_016857003.1
	XM_017001515.1			XP_016857004.1
	AK000869.1			BAA91403.1
	AK301770.1
	BC020660.1			AAH20660.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1013615	Chr.1:48332284 - 48362343 on Build GRCh38	Loss	SPATA6
nsv508182	Chr.1:48264259 - 48353795 on Build GRCh38	Deletion	SPATA6

More Information

• 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