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: | Overlaps Intron 24 - Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript 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 | ||||
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 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | GOLGA8A EMC7 SLC12A6 RYR3 NUTM1 LOC100131315 SCG5 MIR1233-1 KATNBL1 PGBD4 LOC101928134 FMN1 GREM1 ARHGAP11A GOLGA8B LOC105370757 EMC4 CHRM5 TMCO5B NOP10 LOC101928042 MIR1233-2 AVEN LPCAT4 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | ULK4P1 SLC12A6 RYR3 GOLGA8K SCG5 PGBD4 LOC100996255 LOC101928134 FMN1 GOLGA8N ARHGAP11A LOC105370757 LOC101060588 LOC100653133 CHRNA7 EMC4 CHRM5 TMCO5B LOC101928042 MIR1233-2 AVEN GOLGA8A EMC7 NUTM1 LOC100131315 MIR1233-1 KATNBL1 GOLGA8O GREM1 GOLGA8B WHAMMP1 LOC105370940 NOP10 LPCAT4 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | GOLGA8A EMC7 SLC12A6 RYR3 NUTM1 AQR MIR1233-1 KATNBL1 PGBD4 ACTC1 GJD2 ZNF770 GOLGA8B EMC4 CHRM5 LOC101928174 NOP10 MIR1233-2 AVEN LPCAT4 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | SLC12A6 RYR3 SCG5 PGBD4 LOC101928134 FMN1 GOLGA8N ARHGAP11A LOC105370757 EMC4 CHRM5 TMCO5B LOC101928042 MIR1233-2 AVEN GOLGA8A EMC7 NUTM1 LOC100131315 MIR1233-1 KATNBL1 GREM1 GOLGA8B NOP10 LPCAT4 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |