Hs07054668_cn

• Gene Symbol: SPATA7
• Assay Reference Genome Location: Chr.14:88424282 on build GRCh38
• Cytoband: 14q31.3

Target Gene Details

• Entrez Gene ID: 55812
• Gene Name: spermatogenesis associated 7
• Gene Aliases: HEL-S-296, HSD-3.1, HSD3, LCA3
• Location: Chr.14:88385638-88470350 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA7	NM_001040428.3			NP_001035518.1
	NM_018418.4			NP_060888.2
	XM_005267851.1			XP_005267908.1
	XM_005267852.1			XP_005267909.1
	XM_005267854.1			XP_005267911.1
	XM_005267855.1			XP_005267912.1
	XM_006720204.1			XP_006720267.1
	XM_006720205.1			XP_006720268.1
	XM_011536951.1			XP_011535253.1
	XM_011536952.1			XP_011535254.1
	XM_011536953.1			XP_011535255.1
	XM_017021452.1			XP_016876941.1
	XM_017021453.1			XP_016876942.1
	XM_017021454.1			XP_016876943.1
	XM_017021455.1			XP_016876944.1
	XM_017021456.1			XP_016876945.1
	XM_017021457.1			XP_016876946.1
	AF144487.3			AAF66077.2
	AF144488.2			AAF66078.1
	AK055864.1
	AK225746.1
	AK290631.1
	AK293007.1
	AL136604.1			CAB66539.1
	BC090875.1			AAH90875.1
	CR533563.1			CAG38594.1
	CR936777.1
	DA568174.1
	EU668353.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2748992	Chr.14:88423494 - 88424309 on Build GRCh38	Deletion	SPATA7
esv2568808	Chr.14:88422888 - 88424373 on Build GRCh38	Deletion	SPATA7

More Information

Additional Information:

For this assay, SNP(s) [rs73327418] 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)

spermatogenesis
visual perception
photoreceptor cell maintenance
response to stimulus
protein localization to photoreceptor outer segment
protein localization to photoreceptor connecting cilium

Function(s)

protein binding