Assay Details
Target Gene Details
Entrez Gene ID: | 5174 |
Gene Name: | PDZ domain containing 1 |
Gene Aliases: |
CAP70, CLAMP, NHERF-3, NHERF3, PDZD1 |
Location: |
Chr.1:145670852-145707507 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDZK1 | NM_001201325.1 | NP_001188254.1 | ||
NM_001201326.1 | NP_001188255.1 | |||
NM_002614.4 | NP_002605.2 | |||
XM_011509618.2 | XP_011507920.1 | |||
XM_017001467.1 | XP_016856956.1 | |||
AF012281.1 | AAC12264.1 | |||
AK298269.1 | ||||
AK313100.1 | ||||
BC006496.2 | AAH06496.1 | |||
BC006518.2 | AAH06518.1 | |||
BX477678.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3587421 | Chr.1:145649153 - 145751059 on Build GRCh38 | Loss | CD160 RNF115 GPR89A PDZK1 |
dgv331n100 | Chr.1:145642988 - 145827134 on Build GRCh38 | Gain | POLR3C CD160 RNF115 GPR89A PDZK1 |
esv3572342 | Chr.1:145601946 - 145809476 on Build GRCh38 | Gain | CD160 NBPF25P RNF115 GPR89A PDZK1 |
nsv469752 | Chr.1:145639438 - 145790042 on Build GRCh38 | Loss | CD160 RNF115 GPR89A PDZK1 |
nsv831392 | Chr.1:145632374 - 145813165 on Build GRCh38 | Gain | CD160 RNF115 GPR89A PDZK1 |
esv3894089 | Chr.1:145672100 - 145824903 on Build GRCh38 | Loss | POLR3C CD160 RNF115 PDZK1 |
nsv547670 | Chr.1:145689573 - 145778504 on Build GRCh38 | Loss | CD160 RNF115 PDZK1 |
dgv532n54 | Chr.1:145624561 - 145813526 on Build GRCh38 | Gain | CD160 RNF115 GPR89A PDZK1 |
dgv33n27 | Chr.1:145687602 - 145824903 on Build GRCh38 | Loss | POLR3C CD160 RNF115 PDZK1 |
dgv95e212 | Chr.1:145631218 - 145812561 on Build GRCh38 | Gain | CD160 RNF115 GPR89A PDZK1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |