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 | 4808 | NP_001035959.1 |
NM_001042495.1 | 26 | 4483 | NP_001035960.1 | |
NM_001042496.1 | 26 | 4874 | NP_001035961.1 | |
NM_001042497.1 | 24 | 4577 | NP_001035962.1 | |
NM_005135.2 | 25 | 4447 | NP_005126.1 | |
NM_133647.1 | 25 | 4622 | NP_598408.1 | |
XM_006720793.3 | 24 | 5357 | XP_006720856.1 |
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 | LOC105370757 FMN1 NOP10 RYR3 LOC101928134 PGBD4 LOC101928042 EMC4 TMCO5B EMC7 LOC100131315 GOLGA8A GOLGA8B SLC12A6 ARHGAP11A KATNBL1 LPCAT4 CHRM5 MIR1233-2 AVEN GREM1 NUTM1 MIR1233-1 SCG5 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | LOC105370757 NOP10 PGBD4 LOC101928042 GOLGA8O EMC4 LOC100653133 EMC7 LOC100131315 GOLGA8N GOLGA8A KATNBL1 GOLGA8K GREM1 CHRNA7 FMN1 RYR3 LOC101928134 LOC101060588 LOC100996255 TMCO5B GOLGA8B SLC12A6 ARHGAP11A LPCAT4 CHRM5 MIR1233-2 ULK4P1 AVEN LOC105370940 WHAMMP1 NUTM1 MIR1233-1 SCG5 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | NOP10 RYR3 PGBD4 EMC4 ZNF770 EMC7 GOLGA8A LOC101928174 GOLGA8B SLC12A6 KATNBL1 LPCAT4 AQR CHRM5 MIR1233-2 AVEN NUTM1 MIR1233-1 GJD2 ACTC1 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | LOC105370757 NOP10 PGBD4 LOC101928042 EMC4 EMC7 LOC100131315 GOLGA8N GOLGA8A KATNBL1 GREM1 FMN1 RYR3 LOC101928134 TMCO5B GOLGA8B SLC12A6 ARHGAP11A LPCAT4 CHRM5 MIR1233-2 AVEN NUTM1 MIR1233-1 SCG5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |