Assay Details
Target Gene Details
Entrez Gene ID: | 9990 |
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 Transcript 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 | Chr.15:32612402 - 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 | Chr.15:31689863 - 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 | Chr.15:33564570 - 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 | Chr.15:32604149 - 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 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |