Assay Details
Target Gene Details
Entrez Gene ID: | 10993 |
Gene Name: | serine dehydratase |
Gene Aliases: |
SDH |
Location: |
Chr.12:113392445-113403887 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SDS | NM_006843.2 | 2 | 196 | NP_006834.2 |
AK292760.1 | 2 | 192 | ||
BC020750.1 | 2 | 195 | AAH20750.1 | |
BG534053.1 | 2 | 196 | ||
J05037.1 | 2 | 162 | AAA36604.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519540 | Chr.12:113042705 - 113459599 on Build GRCh38 | Gain+Loss | MIR6762 DTX1 IQCD MIR7106 SDSL DDX54 SDS SLC8B1 RASAL1 CFAP73 PLBD2 TPCN1 RITA1 |
esv3892265 | Chr.12:113099321 - 113527932 on Build GRCh38 | Gain | LHX5 MIR6762 IQCD MIR7106 SDSL DDX54 SDS SLC8B1 RASAL1 LHX5-AS1 CFAP73 PLBD2 TPCN1 RITA1 |
esv3630792 | Chr.12:112988703 - 113838810 on Build GRCh38 | Gain | LHX5 MIR6762 RBM19 DTX1 IQCD OAS2 MIR7106 SDSL DDX54 SDS SLC8B1 RASAL1 LHX5-AS1 CFAP73 PLBD2 LINC01234 TPCN1 RITA1 |
More Information
Additional Information:
For this assay, SNP(s) [rs139795134] 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 DGV Variation |