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 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SDS | NM_006843.2 | 8 | 1413 | NP_006834.2 |
AK124290.1 | 1 | 1603 | ||
AK292760.1 | 8 | 1409 | ||
BG566257.1 | 3 | 740 | ||
BU740747.1 | 1 | 208 | ||
J05037.1 | 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 | SDSL SLC8B1 DDX54 MIR7106 SDS PLBD2 DTX1 CFAP73 IQCD TPCN1 RITA1 MIR6762 RASAL1 |
esv3892265 | Chr.12:113099321 - 113527932 on Build GRCh38 | Gain | SDSL SLC8B1 DDX54 MIR7106 SDS PLBD2 LHX5-AS1 CFAP73 IQCD LHX5 TPCN1 RITA1 MIR6762 RASAL1 |
esv3630792 | Chr.12:112988703 - 113838810 on Build GRCh38 | Gain | SDSL SLC8B1 DDX54 MIR7106 SDS PLBD2 LINC01234 RBM19 DTX1 LHX5-AS1 CFAP73 IQCD LHX5 TPCN1 RITA1 MIR6762 RASAL1 OAS2 |
More Information
Additional Information:
For this assay, SNP(s) [rs116277594] 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 |