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 27 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript 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 | Chr.15:32612402 - 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 | Chr.15:31689863 - 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 | Chr.15:33564570 - 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 | Chr.15:32604149 - 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 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |