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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SDS | NM_006843.2 | 6 | 583 | NP_006834.2 |
AK292760.1 | 6 | 579 | ||
BC020750.1 | 6 | 582 | AAH20750.1 | |
BG534053.1 | 6 | 583 | ||
J05037.1 | 6 | 550 | 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 | SDS PLBD2 MIR6762 CFAP73 TPCN1 RITA1 SDSL SLC8B1 IQCD DDX54 MIR7106 RASAL1 DTX1 |
esv3892265 | Chr.12:113099321 - 113527932 on Build GRCh38 | Gain | SDS PLBD2 LHX5-AS1 MIR6762 LHX5 CFAP73 TPCN1 RITA1 SDSL SLC8B1 IQCD DDX54 MIR7106 RASAL1 |
esv3630792 | Chr.12:112988703 - 113838810 on Build GRCh38 | Gain | SDS PLBD2 LHX5-AS1 MIR6762 LHX5 CFAP73 TPCN1 RITA1 RBM19 SDSL SLC8B1 IQCD DDX54 MIR7106 OAS2 LINC01234 RASAL1 DTX1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |