Assay Details
Target Gene Details
Entrez Gene ID: | 57605 |
Gene Name: | phosphatidylinositol transfer protein membrane associated 2 |
Gene Aliases: |
NIR-3, NIR3, RDGB2, RDGBA2 |
Location: |
Chr.12:122983480-123110489 on Build GRCh38 |
Assay Gene Location: | Within Exon 27 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITPNM2 | NM_001300801.1 | 25 | 6377 | NP_001287730.1 |
NM_020845.2 | 25 | 6334 | NP_065896.1 | |
XM_011538590.2 | 26 | 6656 | XP_011536892.1 | |
AB040890.2 | 26 | 6398 | ||
AK026156.1 | 1 | 1327 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv914 | Chr.12:122977362 - 123008698 on Build GRCh38 | Insertion | PITPNM2 ARL6IP4 OGFOD2 |
dgv22n68 | Chr.12:122911380 - 123104743 on Build GRCh38 | Loss | MIR4304 PITPNM2 ARL6IP4 ABCB9 LOC100507091 OGFOD2 |
nsv560493 | Chr.12:122982778 - 122995076 on Build GRCh38 | Loss | PITPNM2 ARL6IP4 |
nsv560492 | Chr.12:122943026 - 123090291 on Build GRCh38 | Loss | MIR4304 PITPNM2 ARL6IP4 ABCB9 LOC100507091 OGFOD2 |
nsv517200 | Chr.12:122827504 - 123169951 on Build GRCh38 | Loss | MIR4304 PITPNM2 MPHOSPH9 VPS37B ARL6IP4 ABCB9 LOC100507091 OGFOD2 HIP1R |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |