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