Assay Details
Target Gene Details
Entrez Gene ID: | 9990 |
Gene Name: | solute carrier family 12 member 6 |
Gene Aliases: |
ACCPN, KCC3, KCC3A, KCC3B |
Location: |
Chr.15:34229996-34338064 on Build GRCh38 |
Assay Gene Location: | Within Exon 27 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC12A6 | NM_001042494.1 | 26 | 4671 | NP_001035959.1 |
NM_001042495.1 | 26 | 4346 | NP_001035960.1 | |
NM_001042496.1 | 26 | 4737 | NP_001035961.1 | |
NM_001042497.1 | 24 | 4440 | NP_001035962.1 | |
NM_005135.2 | 25 | 4310 | NP_005126.1 | |
NM_133647.1 | 25 | 4485 | NP_598408.1 | |
XM_006720793.3 | 24 | 5220 | XP_006720856.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | LOC101928042 PGBD4 EMC7 TMCO5B RYR3 NUTM1 SCG5 FMN1 GREM1 NOP10 GOLGA8A ARHGAP11A LOC105370757 LOC100131315 KATNBL1 EMC4 MIR1233-2 LPCAT4 LOC101928134 GOLGA8B SLC12A6 MIR1233-1 AVEN CHRM5 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | PGBD4 GOLGA8K FMN1 GREM1 NOP10 GOLGA8A LOC100131315 GOLGA8O EMC4 MIR1233-2 CHRNA7 LOC100653133 GOLGA8B LOC101060588 CHRM5 LOC101928042 EMC7 TMCO5B RYR3 NUTM1 SCG5 ARHGAP11A LOC105370757 ULK4P1 KATNBL1 GOLGA8N WHAMMP1 LOC105370940 LPCAT4 LOC101928134 LOC100996255 SLC12A6 MIR1233-1 AVEN |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | PGBD4 GJD2 EMC7 RYR3 NUTM1 LOC101928174 NOP10 GOLGA8A KATNBL1 ZNF770 EMC4 MIR1233-2 LPCAT4 ACTC1 GOLGA8B SLC12A6 AQR MIR1233-1 AVEN CHRM5 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | PGBD4 FMN1 GREM1 NOP10 GOLGA8A LOC100131315 EMC4 MIR1233-2 GOLGA8B CHRM5 LOC101928042 EMC7 TMCO5B RYR3 NUTM1 SCG5 ARHGAP11A LOC105370757 KATNBL1 GOLGA8N LPCAT4 LOC101928134 SLC12A6 MIR1233-1 AVEN |
More Information
Additional Information:
For this assay, SNP(s) [rs75307067] 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 |