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 Exon 9 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CHAT | NM_001142929.1 | 6 | 1022 | NP_001136401.1 |
| NM_001142933.1 | 7 | 1092 | NP_001136405.1 | |
| NM_001142934.1 | 7 | 1092 | NP_001136406.1 | |
| NM_020549.4 | 6 | 1022 | NP_065574.3 | |
| NM_020984.3 | 6 | 688 | NP_066264.3 | |
| NM_020985.3 | 7 | 850 | NP_066265.3 | |
| NM_020986.3 | 6 | 678 | NP_066266.3 | |
| AF305907.1 | 6 | 1022 | AAK08953.1 | |
| AF305908.2 | 7 | 1092 | AAK08954.1 | |
| AF305909.1 | 6 | 688 | AAK08955.1 | |
| BC130615.1 | 5 | 548 | ||
| BC130617.1 | 5 | 548 | ||
| S45018.1 | 5 | 539 | AAB23557.2 | |
| S56138.1 | 6 | 1022 | 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 |
|
| nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map