Product Details

Assay Reference Genome
Location

Chr.15:34230086 on build GRCh38
Cytoband
15q14
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
51234
Gene Symbol
EMC4
Gene Name
ER membrane protein complex subunit 4
Gene Aliases
PIG17, TMEM85
Location
Chr.15:34224997-34230165 on build GRCh38
Assay Gene Location
Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
EMC4 NM_001286420.1 4 807 NP_001273349.1
NM_016454.3 5 968 NP_057538.1
AF151018.1 5 921 AAF36104.1
AK075227.1 5 947 BAC11486.1
AK290524.1 4 791
BC002583.2 4 772 AAH02583.1
DB506932.1 2 379
Entrez Gene ID
9990
Gene Symbol
SLC12A6
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 Location Protein ID
SLC12A6 NM_001042494.1 26 7598 NP_001035959.1
NM_001042495.1 26 7273 NP_001035960.1
NM_001042496.1 26 7664 NP_001035961.1
NM_001042497.1 24 7367 NP_001035962.1
NM_005135.2 25 7237 NP_005126.1
NM_133647.1 25 7412 NP_598408.1
XM_006720793.3 24 8147 XP_006720856.1
AK056019.1 2 1834

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1052620 Chr15:32612402 - 34538731 on Build GRCh38 Gain AVEN GREM1 RYR3 ARHGAP11A NUTM1 MIR1233-1 LOC100131315 SLC12A6 NOP10 SCG5 GOLGA8B FMN1 LPCAT4 EMC4 CHRM5 KATNBL1 MIR1233-2 PGBD4 GOLGA8A LOC105370757 LOC101928042 TMCO5B LOC101928134 EMC7
esv33337 Chr15:31689863 - 34575097 on Build GRCh38 Gain+Loss GREM1 CHRNA7 NUTM1 WHAMMP1 SLC12A6 ULK4P1 NOP10 GOLGA8B LPCAT4 KATNBL1 LOC101928042 TMCO5B GOLGA8O AVEN GOLGA8N RYR3 ARHGAP11A MIR1233-1 LOC100131315 SCG5 LOC105370940 FMN1 EMC4 CHRM5 MIR1233-2 PGBD4 LOC101060588 LOC100996255 GOLGA8K GOLGA8A LOC105370757 LOC101928134 LOC100653133 EMC7
esv3569431 Chr15:33564570 - 35080307 on Build GRCh38 Gain AVEN ACTC1 RYR3 NUTM1 MIR1233-1 LOC101928174 SLC12A6 NOP10 GOLGA8B LPCAT4 ZNF770 EMC4 CHRM5 KATNBL1 GJD2 MIR1233-2 PGBD4 GOLGA8A AQR EMC7
dgv4456n54 Chr15:32604149 - 34557061 on Build GRCh38 Gain GREM1 NUTM1 SLC12A6 NOP10 GOLGA8B LPCAT4 KATNBL1 LOC101928042 TMCO5B AVEN GOLGA8N RYR3 ARHGAP11A MIR1233-1 LOC100131315 SCG5 FMN1 EMC4 CHRM5 MIR1233-2 PGBD4 GOLGA8A LOC105370757 LOC101928134 EMC7

View Full Product Details