Product Details

Assay Reference Genome
Location

Chr.15:34233013 on build GRCh38
Cytoband
15q14
Species
Homo sapiens
Variation Type
Copy Number

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.

Target Gene Details

Entrez Gene ID
9990
Gene Symbol
SLC12A6
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 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 Chr15:32612402 - 34538731 on Build GRCh38 Gain NUTM1 LPCAT4 SLC12A6 RYR3 AVEN ARHGAP11A KATNBL1 LOC101928042 EMC7 PGBD4 CHRM5 TMCO5B LOC100131315 MIR1233-2 LOC101928134 FMN1 GREM1 NOP10 GOLGA8A LOC105370757 GOLGA8B MIR1233-1 EMC4 SCG5
esv33337 Chr15:31689863 - 34575097 on Build GRCh38 Gain+Loss CHRNA7 NUTM1 GOLGA8K ARHGAP11A LOC105370940 PGBD4 CHRM5 LOC100131315 GOLGA8O FMN1 GREM1 GOLGA8N GOLGA8A LOC105370757 MIR1233-1 EMC4 SCG5 LOC100653133 LPCAT4 SLC12A6 RYR3 AVEN KATNBL1 LOC101928042 EMC7 LOC100996255 ULK4P1 LOC101060588 TMCO5B MIR1233-2 LOC101928134 NOP10 WHAMMP1 GOLGA8B
esv3569431 Chr15:33564570 - 35080307 on Build GRCh38 Gain AQR NUTM1 LPCAT4 SLC12A6 RYR3 AVEN KATNBL1 ZNF770 EMC7 ACTC1 PGBD4 CHRM5 MIR1233-2 NOP10 GJD2 GOLGA8A GOLGA8B MIR1233-1 EMC4 LOC101928174
dgv4456n54 Chr15:32604149 - 34557061 on Build GRCh38 Gain NUTM1 ARHGAP11A PGBD4 CHRM5 LOC100131315 FMN1 GREM1 GOLGA8N GOLGA8A LOC105370757 MIR1233-1 EMC4 SCG5 LPCAT4 SLC12A6 RYR3 AVEN KATNBL1 LOC101928042 EMC7 TMCO5B MIR1233-2 LOC101928134 NOP10 GOLGA8B

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