Hs01673328_cn

• Gene Symbol: RSPH1
• Assay Reference Genome Location: Chr.21:42475913 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 89765
• Gene Name: radial spoke head 1 homolog
• Gene Aliases: CT79, RSP44, RSPH10A, TSA2, TSGA2
• Location: Chr.21:42472486-42496354 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RSPH1	NM_001286506.1			NP_001273435.1
	NM_080860.3			NP_543136.1
	XM_005261208.2			XP_005261265.1
	XM_011529786.1			XP_011528088.1
	AB006536.1			BAB83694.1
	AB041016.1			BAB92995.1
	AK057315.1
	AK314746.1
	BC101519.1			AAI01520.1
	BC113367.1
	BU684013.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522001	Chr.21:42421796 - 42827928 on Build GRCh38	Gain	PDE9A RSPH1 LOC101928255 LOC101930094 UBASH3A LOC101928311 LOC101928233 SLC37A1 LOC101928284 LOC101928212
nsv834103	Chr.21:42456611 - 42612638 on Build GRCh38	Gain	RSPH1 LOC101930094 LOC101928233 SLC37A1 LOC101928212

More Information

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

Gene Ontology Categories:

Process(es)

spermatid development
axoneme assembly
meiotic cell cycle

Function(s)

protein binding