Assay Details
Target Gene Details
Entrez Gene ID: | 6529 |
Gene Name: | solute carrier family 6 member 1 |
Gene Aliases: |
GABATHG, GABATR, GAT1, MAE |
Location: |
Chr.3:10992718-11039249 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC6A1 | NM_003042.3 | NP_003033.3 | ||
XM_006713306.3 | XP_006713369.1 | |||
BC033904.1 | AAH33904.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv436362 | Chr.3:10048344 - 11860564 on Build GRCh38 | Deletion | SLC6A1 SLC6A1-AS1 MIR378B BRK1 LINC00606 ATG7 VGLL4 LINC00852 VHL FANCD2 GHRLOS HRH1 GHRL ATP2B2-IT2 IRAK2 TATDN2 SLC6A11 FANCD2OS LOC101927467 TAMM41 SEC13 ATP2B2 MIR885 |
dgv762e201 | Chr.3:10008967 - 11913136 on Build GRCh38 | Deletion | SLC6A1-AS1 LINC00606 ATP2B2-IT2 FANCD2P2 FANCD2OS MIR885 SLC6A1 MIR378B CIDECP BRK1 EMC3 ATG7 VGLL4 LINC00852 VHL FANCD2 LOC401052 GHRLOS HRH1 GHRL IRAK2 TATDN2 SLC6A11 LOC101927467 TAMM41 SEC13 ATP2B2 |
nsv1121603 | Chr.3:10071433 - 11889279 on Build GRCh38 | Deletion | SLC6A1 SLC6A1-AS1 MIR378B BRK1 LINC00606 ATG7 VGLL4 LINC00852 VHL FANCD2 GHRLOS HRH1 GHRL ATP2B2-IT2 IRAK2 TATDN2 SLC6A11 FANCD2P2 FANCD2OS LOC101927467 TAMM41 SEC13 ATP2B2 MIR885 |
nsv436869 | Chr.3:10064456 - 11877985 on Build GRCh38 | Insertion | SLC6A1 SLC6A1-AS1 MIR378B BRK1 LINC00606 ATG7 VGLL4 LINC00852 VHL FANCD2 GHRLOS HRH1 GHRL ATP2B2-IT2 IRAK2 TATDN2 SLC6A11 FANCD2P2 FANCD2OS LOC101927467 TAMM41 SEC13 ATP2B2 MIR885 |
nsv1073204 | Chr.3:9996548 - 11875005 on Build GRCh38 | Deletion | SLC6A1-AS1 LINC00606 ATP2B2-IT2 FANCD2P2 FANCD2OS EMC3-AS1 MIR885 SLC6A1 MIR378B CIDECP BRK1 EMC3 ATG7 VGLL4 LINC00852 VHL FANCD2 LOC401052 GHRLOS HRH1 GHRL IRAK2 TATDN2 SLC6A11 LOC101927467 TAMM41 SEC13 ATP2B2 |
More Information
Additional Information:
For this assay, SNP(s) [rs112714621] 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 Intronic Non-exonic DGV Variation |