Product Details

Assay Reference Genome
Location

Chr.15:34236180 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
Overlaps Intron 24 - Exon 25
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
SLC12A6 NM_001042494.1 NP_001035959.1
NM_001042495.1 NP_001035960.1
NM_001042496.1 NP_001035961.1
NM_001042497.1 NP_001035962.1
NM_005135.2 NP_005126.1
NM_133647.1 NP_598408.1
XM_006720793.3 XP_006720856.1
AF105366.1 AAD39742.1
AF108831.1 AAD25337.1
AF116242.1 AAF24986.1
AF477977.1 AAL85335.1
AF531258.1 AAQ10026.1
AF531259.1 AAQ10027.1
AF531260.1 AAQ10028.1
AK128133.1
AK292550.1
AK315283.1
AL117500.1 CAB55965.1
BC051744.1 AAH51744.1
BC070107.1
BC126241.1
BC126243.1
BC150584.1
BX648195.1 CAI46042.1
DQ138323.1 ABA02873.1

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

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