Assay Details
Target Gene Details
Entrez Gene ID: | 5360 |
Gene Name: | phospholipid transfer protein |
Gene Aliases: |
BPIFE, HDLCQ9 |
Location: |
Chr.20:45898620-45912364 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLTP | NM_001242920.1 | NP_001229849.1 | ||
NM_001242921.1 | NP_001229850.1 | |||
NM_006227.3 | NP_006218.1 | |||
NM_182676.2 | NP_872617.1 | |||
AB076694.1 | BAB79630.1 | |||
AF052157.1 | ||||
AK092397.1 | ||||
AK092523.1 | ||||
AK097009.1 | ||||
AK222690.1 | BAD96410.1 | |||
AK289371.1 | ||||
AK293150.1 | ||||
AK299181.1 | ||||
BC005045.1 | AAH05045.1 | |||
BC019847.1 | AAH19847.1 | |||
BC019898.1 | AAH19898.1 | |||
L26232.1 | AAA36443.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3063791 | Chr.20:45906867 - 45907303 on Build GRCh38 | Deletion | PLTP |
nsv3393 | Chr.20:45903113 - 45913226 on Build GRCh38 | Deletion | PLTP |
esv2722456 | Chr.20:45906691 - 45907225 on Build GRCh38 | Deletion | PLTP |
esv2658653 | Chr.20:45906708 - 45907144 on Build GRCh38 | Deletion | PLTP |
nsv833991 | Chr.20:45885631 - 46068708 on Build GRCh38 | Loss | NCOA5 CTSA LOC107985388 MMP9 PCIF1 ZNF335 SPATA25 NEURL2 PLTP SLC12A5 |
nsv517296 | Chr.20:45854586 - 45965936 on Build GRCh38 | Loss | ZSWIM3 ACOT8 CTSA LOC107985388 PCIF1 ZNF335 SPATA25 NEURL2 PLTP ZSWIM1 |
esv3557124 | Chr.20:45906706 - 45907181 on Build GRCh38 | Deletion | PLTP |
nsv956210 | Chr.20:45906716 - 45907116 on Build GRCh38 | Deletion | PLTP |
nsv833990 | Chr.20:45771510 - 45946844 on Build GRCh38 | Loss | ACOT8 CTSA LOC107985388 PCIF1 SPATA25 NEURL2 PLTP ZSWIM1 ZSWIM3 WFDC3 DNTTIP1 SNX21 TNNC2 UBE2C |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |