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: | Within Intron 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 Gene Details
Entrez Gene ID: | 6572 |
Gene Name: | solute carrier family 18 member A3 |
Gene Aliases: |
VACHT |
Location: |
Chr.10:49610301-49612720 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC18A3 | NM_003055.2 | 1 | 1533 | NP_003046.2 |
AK313094.1 | 1 | 1422 | ||
BC007765.2 | 1 | 1459 | AAH07765.1 | |
U09210.1 | 1 | 1533 | AAA20497.1 |
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 | CHAT SLC18A3 |
nsv550819 | Chr.10:49607466 - 49627218 on Build GRCh38 | Loss | CHAT SLC18A3 |
nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss | FAM170B-AS1 AGAP12P MAPK8 CHAT C10orf71-AS1 C10orf71 SLC18A3 FAM170B ARHGAP22 MIR4294 PARG ERCC6 VSTM4 FRMPD2 PGBD3 LRRC18 C10orf53 C10orf128 WDFY4 FAM25C OGDHL DRGX |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |