Product Details

Assay Reference Genome
Location

Chr.15:34231933 on build GRCh38
Cytoband
15q14
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

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 5751 NP_001035959.1
NM_001042495.1 26 5426 NP_001035960.1
NM_001042496.1 26 5817 NP_001035961.1
NM_001042497.1 24 5520 NP_001035962.1
NM_005135.2 25 5390 NP_005126.1
NM_133647.1 25 5565 NP_598408.1
XM_006720793.3 24 6300 XP_006720856.1
AK056019.1

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

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