Hs01078085_cn

• Gene Symbol: CHPT1
• Assay Reference Genome Location: Chr.12:101731617 on build GRCh38
• Cytoband: 12q23.2

Target Gene Details

• Entrez Gene ID: 56994
• Gene Name: choline phosphotransferase 1
• Gene Aliases: CPT, CPT1
• Location: Chr.12:101697639-101752038 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHPT1

Target Gene Details

• Entrez Gene ID: 50511
• Gene Name: synaptonemal complex protein 3
• Gene Aliases: COR1, RPRGL4, SCP3, SPGF4
• Location: Chr.12:101728648-101739722 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SYCP3	NM_001177948.1			NP_001171419.1
	NM_001177949.1			NP_001171420.1
	NM_153694.4			NP_710161.1
	XM_005268922.4			XP_005268979.3
	XM_005268924.1			XP_005268981.1
	XM_005268925.1			XP_005268982.1
	XM_005268926.3			XP_005268983.1
	XM_005268927.2			XP_005268984.1
	XM_011538421.2			XP_011536723.2
	XM_017019368.1			XP_016874857.1
	AF492003.1			AAN06611.1
	AF517774.1			AAP47204.1
	AK125930.1
	BC062662.1			AAH62662.1
	BG201028.1
	BG202454.1
	BQ428625.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv860	Chr.12:101726092 - 101737832 on Build GRCh38	Deletion	CHPT1 SYCP3
nsv832497	Chr.12:101667198 - 101861862 on Build GRCh38	Gain	GNPTAB MYBPC1 CHPT1 SYCP3
nsv977144	Chr.12:101727921 - 101734218 on Build GRCh38	Duplication	CHPT1 SYCP3

More Information

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

Gene Ontology Categories:

Process(es)

male meiosis I
spermatogenesis, exchange of chromosomal proteins
cell division

Function(s)

DNA binding