Product Details

Assay Reference Genome
Location

Chr.15:34232585 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 5099 NP_001035959.1
NM_001042495.1 26 4774 NP_001035960.1
NM_001042496.1 26 5165 NP_001035961.1
NM_001042497.1 24 4868 NP_001035962.1
NM_005135.2 25 4738 NP_005126.1
NM_133647.1 25 4913 NP_598408.1
XM_006720793.3 24 5648 XP_006720856.1
AK056019.1 1 119

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

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