Assay Details
Target Gene Details
Entrez Gene ID: | 10908 |
Gene Name: | patatin like phospholipase domain containing 6 |
Gene Aliases: |
BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws |
Location: |
Chr.19:7534152-7561767 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 18 - Intron 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PNPLA6 | NM_001166111.1 | NP_001159583.1 | ||
NM_001166112.1 | NP_001159584.1 | |||
NM_001166113.1 | NP_001159585.1 | |||
NM_001166114.1 | NP_001159586.1 | |||
NM_006702.4 | NP_006693.3 | |||
AJ004832.1 | CAA06164.1 | |||
AK293807.1 | ||||
AK294021.1 | ||||
AK302462.1 | ||||
BC038229.1 | AAH38229.1 | |||
BC050553.1 | AAH50553.1 | |||
BC051768.1 | AAH51768.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1060887 | Chr.19:7089546 - 7861087 on Build GRCh38 | Gain | LOC107985283 CAMSAP3 ARHGEF18 C19orf45 RETN MIR6792 MCOLN1 CD209 STXBP2 LOC100128573 MCEMP1 XAB2 CLEC4M TRAPPC5 PNPLA6 INSR CLEC4G PCP2 CLEC4GP1 ZNF358 PET100 EVI5L PEX11G FCER2 |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | CAMSAP3 PNPLA6 MIR6792 MCOLN1 PCP2 ZNF358 PET100 XAB2 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | LOC107985283 CAMSAP3 C19orf45 MIR6792 STXBP2 MBD3L5 MCEMP1 XAB2 CLEC4M PNPLA6 MBD3L2 CLEC4G PCP2 ZNF557 CLEC4GP1 ZNF358 PET100 ARHGEF18 LOC729458 RETN MCOLN1 MBD3L4 CD209 LOC100128573 ADGRE1 TRAPPC5 ADGRE4P INSR MBD3L3 FLJ25758 PEX11G FCER2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |