Assay Details
Target Gene Details
Entrez Gene ID: | 5306 |
Gene Name: | phosphatidylinositol transfer protein alpha |
Gene Aliases: |
HEL-S-36, PI-TPalpha, PITPN, VIB1A |
Location: |
Chr.17:1517989-1562816 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITPNA | NM_006224.3 | 12 | 2019 | NP_006215.1 |
XM_011523939.1 | 11 | 1931 | XP_011522241.1 | |
XM_011523940.1 | 12 | 2441 | XP_011522242.1 | |
BC045108.1 | 12 | 1994 | AAH45108.1 | |
BC068538.1 | 12 | 1902 | AAH68538.1 | |
BC082976.1 | 12 | 1934 | AAH82976.1 | |
D30036.1 | 12 | 1971 | BAA06276.1 | |
EU794647.1 | 12 | 1994 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833334 | Chr.17:1411327 - 1582381 on Build GRCh38 | Loss | PITPNA-AS1 INPP5K CRK MYO1C SLC43A2 PITPNA |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |