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 | 2361 | NP_003046.2 |
BC007765.2 | 1 | 2287 | AAH07765.1 | |
U09210.1 | 1 | 2361 | 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 | SLC18A3 CHAT |
nsv550819 | Chr.10:49607466 - 49627218 on Build GRCh38 | Loss | SLC18A3 CHAT |
nsv1042677 | Chr.10:47993784 - 49928329 on Build GRCh38 | Loss | DRGX VSTM4 AGAP12P FAM170B-AS1 C10orf71 PARG WDFY4 PGBD3 OGDHL MIR4294 SLC18A3 C10orf53 ERCC6 LRRC18 FAM170B C10orf128 ARHGAP22 FAM25C FRMPD2 MAPK8 C10orf71-AS1 CHAT |
More Information
Additional Information:
For this assay, SNP(s) [rs74832669] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |