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 | 6868 | NP_001035959.1 |
NM_001042495.1 | 26 | 6543 | NP_001035960.1 | |
NM_001042496.1 | 26 | 6934 | NP_001035961.1 | |
NM_001042497.1 | 24 | 6637 | NP_001035962.1 | |
NM_005135.2 | 25 | 6507 | NP_005126.1 | |
NM_133647.1 | 25 | 6682 | NP_598408.1 | |
XM_006720793.3 | 24 | 7417 | XP_006720856.1 | |
AK056019.1 | 2 | 1104 |
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 | GOLGA8B ARHGAP11A LOC100131315 TMCO5B RYR3 LOC105370757 FMN1 EMC7 AVEN NUTM1 EMC4 MIR1233-2 PGBD4 GOLGA8A MIR1233-1 NOP10 SCG5 KATNBL1 CHRM5 LPCAT4 LOC101928042 LOC101928134 GREM1 SLC12A6 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | ARHGAP11A LOC100653133 LOC100131315 WHAMMP1 RYR3 LOC105370757 FMN1 GOLGA8O EMC4 MIR1233-2 PGBD4 GOLGA8A GOLGA8N NOP10 CHRM5 LPCAT4 LOC101928042 LOC101928134 LOC100996255 GREM1 GOLGA8B TMCO5B EMC7 LOC105370940 AVEN NUTM1 MIR1233-1 SCG5 CHRNA7 GOLGA8K KATNBL1 LOC101060588 ULK4P1 SLC12A6 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | GOLGA8B ACTC1 RYR3 EMC7 AVEN NUTM1 EMC4 MIR1233-2 PGBD4 GOLGA8A MIR1233-1 NOP10 ZNF770 KATNBL1 CHRM5 LOC101928174 GJD2 LPCAT4 SLC12A6 AQR |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | ARHGAP11A LOC100131315 RYR3 LOC105370757 FMN1 EMC4 MIR1233-2 PGBD4 GOLGA8A GOLGA8N NOP10 CHRM5 LPCAT4 LOC101928042 LOC101928134 GREM1 GOLGA8B TMCO5B EMC7 AVEN NUTM1 MIR1233-1 SCG5 KATNBL1 SLC12A6 |
More Information
Additional Information:
For this assay, SNP(s) [rs145421659] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |