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 | 299 | NP_061755.1 |
AF152491.1 | 1 | 110 | AAD43752.1 | |
AF217746.1 | 1 | 110 | AAK51614.1 | |
AK293336.1 | ||||
AK316160.1 | 1 | 299 | ||
BC045637.1 | 1 | 299 | 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 | PCDHB10 PCDHB16 PCDHB9 PCDHB12 PCDHB11 |
esv2759382 | Chr.5:140777355 - 141449115 on Build GRCh38 | Gain | PCDHB16 PCDHB15 PCDHA4 PCDHAC1 PCDHB17P PCDHGA7 PCDHB5 PCDHGA6 PCDHGA4 PCDHGA5 PCDHA5 PCDHB12 PCDHB1 PCDHGA8 PCDHA13 PCDHA10 PCDHGA9 PCDHB4 PCDHGA1 PCDHB18P PCDHA12 PCDHGB4 PCDHB6 PCDHGA10 PCDHA6 PCDHB13 SLC25A2 PCDHGB8P PCDHGB3 PCDHGB5 PCDHGA2 PCDHB7 PCDHA8 PCDHA9 LOC101926905 PCDHA2 PCDHGA3 PCDHA1 PCDHAC2 PCDHB8 PCDHB19P PCDHA11 PCDHA3 PCDHB10 PCDHGB1 PCDHGB7 PCDHGA12 PCDHB3 PCDHB9 PCDHA7 PCDHGB6 PCDHGA11 PCDHB14 PCDHGB2 TAF7 PCDHB2 PCDHB11 |
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 | PCDHB10 PCDHB16 PCDHB9 PCDHB8 PCDHB14 PCDHB7 PCDHB12 PCDHB11 PCDHB13 PCDHB17P |
esv2730846 | Chr.5:141193679 - 141210136 on Build GRCh38 | Deletion | PCDHB10 PCDHB12 PCDHB11 |
nsv1024594 | Chr.5:141167591 - 141243953 on Build GRCh38 | Loss | PCDHB10 PCDHB16 PCDHB9 PCDHB8 PCDHB19P PCDHB14 PCDHB7 PCDHB12 PCDHB11 PCDHB13 PCDHB18P |
nsv471634 | Chr.5:141106394 - 141258375 on Build GRCh38 | Gain+Loss | PCDHB16 PCDHB8 PCDHB19P PCDHB15 PCDHB4 PCDHB7 PCDHB17P PCDHB18P PCDHB10 PCDHB5 PCDHB9 PCDHB6 PCDHB14 PCDHB12 PCDHB11 PCDHB13 |
nsv428127 | Chr.5:141016768 - 141319173 on Build GRCh38 | Loss | PCDHB16 PCDHB8 SLC25A2 PCDHB19P PCDHB15 PCDHB4 PCDHB7 PCDHB17P PCDHB18P PCDHB10 LOC101926905 PCDHB3 PCDHB5 PCDHB9 PCDHB6 PCDHB14 TAF7 PCDHB2 PCDHB12 PCDHB11 PCDHB1 PCDHB13 |
esv2664767 | Chr.5:141177668 - 141213756 on Build GRCh38 | Deletion | PCDHB10 PCDHB16 PCDHB9 PCDHB8 PCDHB12 PCDHB11 |
dgv958e201 | Chr.5:141174165 - 141215536 on Build GRCh38 | Deletion | PCDHB10 PCDHB16 PCDHB9 PCDHB8 PCDHB7 PCDHB12 PCDHB11 PCDHB13 |
nsv599908 | Chr.5:141139584 - 141250122 on Build GRCh38 | Loss | PCDHB16 PCDHB8 PCDHB19P PCDHB15 PCDHB7 PCDHB17P PCDHB18P PCDHB10 PCDHB9 PCDHB6 PCDHB14 PCDHB12 PCDHB11 PCDHB13 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |