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 | 5193 | NP_001287730.1 |
NM_020845.2 | 25 | 5150 | NP_065896.1 | |
XM_011538590.2 | 26 | 5472 | XP_011536892.1 | |
AB040890.2 | 26 | 5214 | ||
AK026156.1 | 1 | 143 | ||
AL133612.1 | 16 | 3597 | CAB63741.1 | |
H25884.1 | 1 | 105 |
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 | ARL6IP4 PITPNM2 OGFOD2 |
dgv22n68 | Chr.12:122911380 - 123104743 on Build GRCh38 | Loss | ARL6IP4 PITPNM2 ABCB9 OGFOD2 MIR4304 LOC100507091 |
nsv560493 | Chr.12:122982778 - 122995076 on Build GRCh38 | Loss | ARL6IP4 PITPNM2 |
nsv560492 | Chr.12:122943026 - 123090291 on Build GRCh38 | Loss | ARL6IP4 PITPNM2 ABCB9 OGFOD2 MIR4304 LOC100507091 |
nsv517200 | Chr.12:122827504 - 123169951 on Build GRCh38 | Loss | ARL6IP4 MPHOSPH9 PITPNM2 ABCB9 OGFOD2 MIR4304 HIP1R LOC100507091 VPS37B |
More Information
Additional Information:
For this assay, SNP(s) [rs76614874] 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 Exonic DGV Variation |