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 | 5507 | NP_001035959.1 |
NM_001042495.1 | 26 | 5182 | NP_001035960.1 | |
NM_001042496.1 | 26 | 5573 | NP_001035961.1 | |
NM_001042497.1 | 24 | 5276 | NP_001035962.1 | |
NM_005135.2 | 25 | 5146 | NP_005126.1 | |
NM_133647.1 | 25 | 5321 | NP_598408.1 | |
XM_006720793.3 | 24 | 6056 | XP_006720856.1 | |
AK056019.1 | 1 | 527 |
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 | LOC101928042 MIR1233-2 SLC12A6 MIR1233-1 NOP10 SCG5 EMC7 TMCO5B GOLGA8A PGBD4 ARHGAP11A KATNBL1 LPCAT4 LOC100131315 EMC4 FMN1 NUTM1 LOC105370757 GOLGA8B AVEN RYR3 CHRM5 LOC101928134 GREM1 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | SCG5 LOC100996255 TMCO5B ARHGAP11A GOLGA8N KATNBL1 FMN1 NUTM1 GOLGA8K LOC105370757 ULK4P1 AVEN LOC101928134 WHAMMP1 LOC101928042 MIR1233-2 SLC12A6 MIR1233-1 NOP10 EMC7 GOLGA8A CHRNA7 PGBD4 LOC100653133 LOC101060588 LOC105370940 LPCAT4 LOC100131315 EMC4 GOLGA8B RYR3 CHRM5 GOLGA8O GREM1 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | MIR1233-2 SLC12A6 MIR1233-1 AQR NOP10 EMC7 ZNF770 GOLGA8A PGBD4 KATNBL1 LPCAT4 EMC4 NUTM1 LOC101928174 GOLGA8B AVEN RYR3 CHRM5 ACTC1 GJD2 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | SCG5 TMCO5B ARHGAP11A GOLGA8N KATNBL1 FMN1 NUTM1 LOC105370757 AVEN LOC101928134 LOC101928042 MIR1233-2 SLC12A6 MIR1233-1 NOP10 EMC7 GOLGA8A PGBD4 LPCAT4 LOC100131315 EMC4 GOLGA8B RYR3 CHRM5 GREM1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |