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: | Within 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 | PEX11G LOC100128573 PNPLA6 CAMSAP3 ARHGEF18 MIR6792 MCOLN1 CD209 INSR PCP2 XAB2 CLEC4M TRAPPC5 PET100 RETN CLEC4GP1 MCEMP1 FCER2 C19orf45 STXBP2 LOC107985283 ZNF358 EVI5L CLEC4G |
nsv833730 | Chr.19:7509505 - 7633597 on Build GRCh38 | Loss | PNPLA6 PET100 CAMSAP3 MIR6792 MCOLN1 ZNF358 PCP2 XAB2 |
esv2751809 | Chr.19:6896369 - 7816144 on Build GRCh38 | Gain | LOC100128573 PNPLA6 MBD3L3 CAMSAP3 MBD3L2 CD209 INSR PCP2 TRAPPC5 ZNF557 CLEC4GP1 MCEMP1 FCER2 STXBP2 ZNF358 CLEC4G MBD3L4 PEX11G FLJ25758 LOC729458 ARHGEF18 MIR6792 MCOLN1 XAB2 CLEC4M PET100 RETN ADGRE1 C19orf45 MBD3L5 LOC107985283 ADGRE4P |
More Information
Additional Information:
For this assay, SNP(s) [rs114250447] 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 Intronic Non-exonic DGV Variation |