Hs05172646_cn

• Gene Symbol: CHAT
• Assay Reference Genome Location: Chr.10:49609082 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 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHAT	NM_020984.3			NP_066264.3
	AF305909.1			AAK08955.1
	D82342.1			BAA18946.1

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	SLC18A3 CHAT
nsv1042677	Chr.10:47993784 - 49928329 on Build GRCh38	Loss	C10orf128 SLC18A3 DRGX PGBD3 OGDHL FRMPD2 FAM170B-AS1 VSTM4 AGAP12P FAM25C ERCC6 C10orf71-AS1 C10orf53 PARG ARHGAP22 MAPK8 CHAT MIR4294 C10orf71 FAM170B LRRC18 WDFY4

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