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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHAT | NM_001142929.1 | 3 | 630 | NP_001136401.1 |
NM_001142933.1 | 4 | 700 | NP_001136405.1 | |
NM_001142934.1 | 4 | 700 | NP_001136406.1 | |
NM_020549.4 | 3 | 630 | NP_065574.3 | |
NM_020984.3 | 3 | 296 | NP_066264.3 | |
NM_020985.3 | 4 | 458 | NP_066265.3 | |
NM_020986.3 | 3 | 286 | NP_066266.3 | |
AF305907.1 | 3 | 630 | AAK08953.1 | |
AF305908.2 | 4 | 700 | AAK08954.1 | |
AF305909.1 | 3 | 296 | AAK08955.1 | |
AF450452.1 | 3 | 523 | AAL48258.1 | |
BC130615.1 | 2 | 156 | ||
BC130617.1 | 2 | 156 | ||
D82339.1 | BAA18943.1 | |||
D82340.1 | 4 | 458 | BAA18944.1 | |
D82341.1 | BAA18945.1 | |||
D82342.1 | BAA18946.1 | |||
S45018.1 | 2 | 147 | AAB23557.2 | |
S56138.1 | 3 | 630 | 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 |
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nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss |
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More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)