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 Exon 8 - Intron 8 |
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 | SLC18A3 CHAT |
nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss | ARHGAP22 C10orf53 C10orf71-AS1 C10orf71 PARG MAPK8 VSTM4 AGAP12P SLC18A3 DRGX CHAT FRMPD2 PGBD3 FAM25C FAM170B MIR4294 OGDHL ERCC6 C10orf128 FAM170B-AS1 WDFY4 LRRC18 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |