Product Details

Assay Reference Genome
Location

Chr.15:34237462 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 23
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
SLC12A6 NM_001042494.1 22 3241 NP_001035959.1
NM_001042495.1 22 2916 NP_001035960.1
NM_001042496.1 22 3307 NP_001035961.1
NM_001042497.1 20 3010 NP_001035962.1
NM_005135.2 21 2880 NP_005126.1
NM_133647.1 21 3055 NP_598408.1
XM_006720793.3 20 3790 XP_006720856.1
AF105366.1 21 3055 AAD39742.1
AF108831.1 21 2789 AAD25337.1
AF116242.1 21 2891 AAF24986.1
AF477977.1 22 3248 AAL85335.1
AF531258.1 20 3010 AAQ10026.1
AF531259.1 22 3248 AAQ10027.1
AF531260.1 22 2886 AAQ10028.1
AK128133.1 20 2563
AK292550.1 22 2994
AK315283.1 21 2852
AL117500.1 18 2483 CAB55965.1
BC051744.1 22 3244 AAH51744.1
BC070107.1 22 2911
BC126241.1 21 2788
BC126243.1 21 2788
BX648195.1 21 3927 CAI46042.1
DQ138323.1 22 3306 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 TMCO5B KATNBL1 PGBD4 RYR3 AVEN ARHGAP11A GREM1 LOC101928134 MIR1233-2 LOC100131315 GOLGA8B LPCAT4 FMN1 NOP10 LOC105370757 NUTM1 EMC4 SCG5 MIR1233-1 CHRM5 LOC101928042 EMC7 GOLGA8A SLC12A6
esv33337 Chr15:31689863 - 34575097 on Build GRCh38 Gain+Loss TMCO5B PGBD4 RYR3 ULK4P1 ARHGAP11A GREM1 LOC101928134 GOLGA8B GOLGA8O LPCAT4 NOP10 LOC100996255 LOC105370757 LOC101060588 SCG5 MIR1233-1 CHRM5 SLC12A6 KATNBL1 WHAMMP1 AVEN GOLGA8N CHRNA7 MIR1233-2 LOC100131315 FMN1 GOLGA8K LOC105370940 NUTM1 EMC4 LOC101928042 EMC7 GOLGA8A LOC100653133
esv3569431 Chr15:33564570 - 35080307 on Build GRCh38 Gain KATNBL1 ZNF770 PGBD4 RYR3 AVEN MIR1233-2 GOLGA8B AQR GJD2 LPCAT4 ACTC1 NOP10 LOC101928174 NUTM1 EMC4 MIR1233-1 CHRM5 EMC7 GOLGA8A SLC12A6
dgv4456n54 Chr15:32604149 - 34557061 on Build GRCh38 Gain TMCO5B PGBD4 RYR3 ARHGAP11A GREM1 LOC101928134 GOLGA8B LPCAT4 NOP10 LOC105370757 SCG5 MIR1233-1 CHRM5 SLC12A6 KATNBL1 AVEN GOLGA8N MIR1233-2 LOC100131315 FMN1 NUTM1 EMC4 LOC101928042 EMC7 GOLGA8A

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