Hs01611408_cn

• Gene Symbol: CHPT1
• Assay Reference Genome Location: Chr.12:101737886 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SYCP3	NM_001177948.1	2	174	NP_001171419.1
	NM_001177949.1	2	189	NP_001171420.1
	NM_153694.4	2	185	NP_710161.1
	XM_005268922.4	2	435	XP_005268979.3
	XM_005268924.1	2	173	XP_005268981.1
	XM_005268925.1	2	178	XP_005268982.1
	XM_005268926.3	2	157	XP_005268983.1
	XM_005268927.2	2	146	XP_005268984.1
	XM_011538421.2	2	357	XP_011536723.2
	XM_017019368.1	2	432	XP_016874857.1
	AF492003.1	2	130	AAN06611.1
	AF517774.1	2	128	AAP47204.1
	AK125930.1	2	178
	BC062662.1	2	180	AAH62662.1
	BQ428625.1	2	190

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832497	Chr.12:101667198 - 101861862 on Build GRCh38	Gain	GNPTAB SYCP3 CHPT1 MYBPC1

More Information

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

Gene Ontology Categories:

Process(es)

male meiosis I
spermatogenesis, exchange of chromosomal proteins
cell division

Function(s)

DNA binding