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 20 - Exon 20 |
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 |
---|---|---|---|
esv3636106 | Chr.15:34238802 - 34242941 on Build GRCh38 | Gain | SLC12A6 |
esv2659969 | Chr.15:34239070 - 34242993 on Build GRCh38 | Deletion | SLC12A6 |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | LPCAT4 SCG5 EMC7 ARHGAP11A RYR3 GOLGA8B LOC101928042 CHRM5 AVEN FMN1 LOC101928134 NOP10 SLC12A6 TMCO5B KATNBL1 GOLGA8A NUTM1 EMC4 MIR1233-1 PGBD4 LOC100131315 LOC105370757 MIR1233-2 GREM1 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | LOC100653133 WHAMMP1 ARHGAP11A RYR3 FMN1 LOC101928134 LOC105370940 SLC12A6 KATNBL1 GOLGA8K MIR1233-1 LOC100131315 GOLGA8O MIR1233-2 GREM1 LOC101060588 LPCAT4 SCG5 EMC7 GOLGA8B LOC101928042 CHRM5 AVEN NOP10 ULK4P1 LOC100996255 TMCO5B GOLGA8A NUTM1 EMC4 CHRNA7 PGBD4 LOC105370757 GOLGA8N |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | AQR LPCAT4 EMC7 GJD2 RYR3 GOLGA8B CHRM5 AVEN NOP10 SLC12A6 KATNBL1 LOC101928174 GOLGA8A ACTC1 NUTM1 ZNF770 EMC4 MIR1233-1 PGBD4 MIR1233-2 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | ARHGAP11A RYR3 FMN1 LOC101928134 SLC12A6 KATNBL1 MIR1233-1 LOC100131315 MIR1233-2 GREM1 LPCAT4 SCG5 EMC7 GOLGA8B LOC101928042 CHRM5 AVEN NOP10 TMCO5B GOLGA8A NUTM1 EMC4 PGBD4 LOC105370757 GOLGA8N |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |