Assay Details
Target Gene Details
Entrez Gene ID: | 56124 |
Gene Name: | protocadherin beta 12 |
Gene Aliases: |
PCDH-BETA12 |
Location: |
Chr.5:141208719-141212126 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCDHB12 | NM_018932.3 | 1 | 459 | NP_061755.1 |
AF152491.1 | 1 | 270 | AAD43752.1 | |
AF217746.1 | 1 | 270 | AAK51614.1 | |
AK293336.1 | ||||
AK316160.1 | ||||
BC045637.1 | 1 | 459 | AAH45637.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv599919 | Chr.5:141182193 - 141212836 on Build GRCh38 | Loss | PCDHB12 PCDHB9 PCDHB10 PCDHB16 PCDHB11 |
esv2759382 | Chr.5:140777355 - 141449115 on Build GRCh38 | Gain | LOC101926905 PCDHGA7 PCDHGA4 PCDHGB1 PCDHA1 PCDHB16 PCDHGA3 SLC25A2 PCDHGA8 PCDHA12 PCDHB6 PCDHGA10 PCDHA13 PCDHGA12 PCDHA9 PCDHB1 PCDHGB4 PCDHGA9 TAF7 PCDHA10 PCDHGA11 PCDHAC2 PCDHA7 PCDHGA5 PCDHB3 PCDHGB2 PCDHB13 PCDHGB3 PCDHB15 PCDHA3 PCDHB11 PCDHA11 PCDHA4 PCDHB4 PCDHA5 PCDHB9 PCDHGB8P PCDHB10 PCDHA8 PCDHGA1 PCDHB7 PCDHGA6 PCDHB12 PCDHGB7 PCDHAC1 PCDHB2 PCDHB5 PCDHB14 PCDHB8 PCDHB17P PCDHGB5 PCDHB19P PCDHA6 PCDHGA2 PCDHB18P PCDHGB6 PCDHA2 |
esv3606974 | Chr.5:141203379 - 141210938 on Build GRCh38 | Gain | PCDHB12 |
nsv969261 | Chr.5:141199392 - 141210803 on Build GRCh38 | Duplication | PCDHB12 PCDHB11 |
nsv823266 | Chr.5:141156966 - 141222863 on Build GRCh38 | Gain | PCDHB12 PCDHB9 PCDHB10 PCDHB13 PCDHB16 PCDHB14 PCDHB7 PCDHB8 PCDHB17P PCDHB11 |
esv2730846 | Chr.5:141193679 - 141210136 on Build GRCh38 | Deletion | PCDHB12 PCDHB10 PCDHB11 |
nsv1024594 | Chr.5:141167591 - 141243953 on Build GRCh38 | Loss | PCDHB12 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB16 PCDHB18P PCDHB14 PCDHB7 PCDHB8 PCDHB11 |
nsv471634 | Chr.5:141106394 - 141258375 on Build GRCh38 | Gain+Loss | PCDHB12 PCDHB16 PCDHB5 PCDHB4 PCDHB14 PCDHB8 PCDHB17P PCDHB6 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB18P PCDHB15 PCDHB7 PCDHB11 |
nsv428127 | Chr.5:141016768 - 141319173 on Build GRCh38 | Loss | PCDHB12 LOC101926905 TAF7 PCDHB16 PCDHB2 PCDHB5 PCDHB4 PCDHB14 PCDHB8 PCDHB17P SLC25A2 PCDHB3 PCDHB6 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB18P PCDHB15 PCDHB1 PCDHB7 PCDHB11 |
esv2664767 | Chr.5:141177668 - 141213756 on Build GRCh38 | Deletion | PCDHB12 PCDHB9 PCDHB10 PCDHB16 PCDHB8 PCDHB11 |
dgv958e201 | Chr.5:141174165 - 141215536 on Build GRCh38 | Deletion | PCDHB12 PCDHB9 PCDHB10 PCDHB13 PCDHB16 PCDHB7 PCDHB8 PCDHB11 |
nsv599908 | Chr.5:141139584 - 141250122 on Build GRCh38 | Loss | PCDHB12 PCDHB16 PCDHB14 PCDHB8 PCDHB17P PCDHB6 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB18P PCDHB15 PCDHB7 PCDHB11 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |