Assay Details
Target Gene Details
Entrez Gene ID: | 5308 |
Gene Name: | paired like homeodomain 2 |
Gene Aliases: |
ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS |
Location: |
Chr.4:110617423-110642123 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PITX2 | NM_001204397.1 | 5 | 1971 | NP_001191326.1 |
NM_001204398.1 | 3 | 363 | NP_001191327.1 | |
NM_001204399.1 | NP_001191328.1 | |||
NM_153426.2 | 4 | 1737 | NP_700475.1 | |
NM_153427.2 | NP_700476.1 | |||
XM_011532027.2 | XP_011530329.1 | |||
AF048720.1 | AAC39716.1 | |||
AF048721.1 | 3 | 398 | AAC39717.1 | |
AK127829.1 | 5 | 1809 | ||
AK291591.1 | ||||
BC106010.1 | AAI06011.1 | |||
BP372081.1 | 3 | 363 | ||
U69961.1 | AAC16257.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830036 | Chr.4:110485346 - 110674573 on Build GRCh38 | Gain | ENPEP PITX2 |
esv2728138 | Chr.4:110565922 - 110650718 on Build GRCh38 | Deletion | PITX2 |
nsv1007337 | Chr.4:110627440 - 112060666 on Build GRCh38 | Loss | PITX2 LOC105377368 MIR297 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |