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 | 7254 | NP_001035959.1 |
NM_001042495.1 | 26 | 6929 | NP_001035960.1 | |
NM_001042496.1 | 26 | 7320 | NP_001035961.1 | |
NM_001042497.1 | 24 | 7023 | NP_001035962.1 | |
NM_005135.2 | 25 | 6893 | NP_005126.1 | |
NM_133647.1 | 25 | 7068 | NP_598408.1 | |
XM_006720793.3 | 24 | 7803 | XP_006720856.1 | |
AK056019.1 | 2 | 1490 |
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 | TMCO5B RYR3 MIR1233-1 EMC4 GREM1 LOC100131315 NOP10 GOLGA8A LOC101928042 GOLGA8B NUTM1 LOC101928134 ARHGAP11A SCG5 SLC12A6 FMN1 LOC105370757 AVEN EMC7 KATNBL1 LPCAT4 CHRM5 PGBD4 MIR1233-2 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | LOC100653133 RYR3 MIR1233-1 EMC4 GREM1 LOC100996255 GOLGA8A LOC101928042 GOLGA8B NUTM1 LOC101928134 ARHGAP11A SCG5 GOLGA8K ULK4P1 LOC105370940 LOC105370757 EMC7 CHRM5 PGBD4 GOLGA8N TMCO5B GOLGA8O WHAMMP1 LOC100131315 NOP10 CHRNA7 SLC12A6 FMN1 AVEN LOC101060588 KATNBL1 LPCAT4 MIR1233-2 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | LOC101928174 RYR3 MIR1233-1 GJD2 EMC4 NOP10 GOLGA8A AQR GOLGA8B NUTM1 SLC12A6 ZNF770 AVEN EMC7 KATNBL1 LPCAT4 CHRM5 PGBD4 MIR1233-2 ACTC1 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | RYR3 MIR1233-1 EMC4 GREM1 GOLGA8A LOC101928042 GOLGA8B NUTM1 LOC101928134 ARHGAP11A SCG5 LOC105370757 EMC7 CHRM5 PGBD4 GOLGA8N TMCO5B LOC100131315 NOP10 SLC12A6 FMN1 AVEN KATNBL1 LPCAT4 MIR1233-2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |