Hs02164292_cn

• Gene Symbol: CHAT
• Assay Reference Genome Location: Chr.10:49625487 on build GRCh38
• Cytoband: 10q11.23

Target Gene Details

• Entrez Gene ID: 1103
• Gene Name: choline O-acetyltransferase
• Gene Aliases: CHOACTASE, CMS1A, CMS1A2, CMS6
• Location: Chr.10:49609095-49665104 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHAT	NM_001142929.1			NP_001136401.1
	NM_001142933.1			NP_001136405.1
	NM_001142934.1			NP_001136406.1
	NM_020549.4			NP_065574.3
	NM_020984.3			NP_066264.3
	NM_020985.3			NP_066265.3
	NM_020986.3			NP_066266.3
	AF305907.1			AAK08953.1
	AF305908.2			AAK08954.1
	AF305909.1			AAK08955.1
	BC130615.1
	BC130617.1
	D82340.1			BAA18944.1
	S45018.1			AAB23557.2
	S56138.1			AAA14245.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv550819	Chr.10:49607466 - 49627218 on Build GRCh38	Loss	CHAT SLC18A3
nsv1042677	Chr.10:47993784 - 49928329 on Build GRCh38	Loss	WDFY4 PARG C10orf128 PGBD3 DRGX CHAT LRRC18 FAM170B C10orf53 FRMPD2 SLC18A3 AGAP12P C10orf71 VSTM4 OGDHL MAPK8 ERCC6 ARHGAP22 FAM170B-AS1 FAM25C MIR4294 C10orf71-AS1

More Information

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

antral ovarian follicle growth
response to hypoxia
phosphatidylcholine biosynthetic process
neurotransmitter secretion
response to nutrient
memory
acetylcholine biosynthetic process
response to drug
response to ethanol

Function(s)

choline O-acetyltransferase activity
choline binding