Assay Details
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 4 - Exon 5 |
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 | |||
AF450452.1 | AAL48258.1 | |||
BC130615.1 | ||||
BC130617.1 | ||||
D82339.1 | BAA18943.1 | |||
D82340.1 | BAA18944.1 | |||
D82341.1 | BAA18945.1 | |||
D82342.1 | BAA18946.1 | |||
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 |
---|---|---|---|
nsv950954 | Chr.10:49609255 - 49617854 on Build GRCh38 | Deletion | SLC18A3 CHAT |
nsv550819 | Chr.10:49607466 - 49627218 on Build GRCh38 | Loss | SLC18A3 CHAT |
nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss | LRRC18 WDFY4 C10orf71-AS1 ARHGAP22 DRGX ERCC6 FAM25C C10orf71 SLC18A3 C10orf128 FAM170B PARG MAPK8 FRMPD2 VSTM4 FAM170B-AS1 PGBD3 OGDHL C10orf53 MIR4294 AGAP12P CHAT |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |