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 | 1413 | NP_003046.2 |
| AK313094.1 | 1 | 1302 | ||
| BC007765.2 | 1 | 1339 | AAH07765.1 | |
| U09210.1 | 1 | 1413 | 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 |
|
| nsv550819 | Chr.10:49607466 - 49627218 on Build GRCh38 | Loss |
|
| nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map