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 | 121 | NP_061755.1 |
AK293336.1 | 1 | 143 | ||
AK316160.1 | 1 | 121 | ||
BC045637.1 | 1 | 121 | 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 | PCDHB11 PCDHB16 PCDHB9 PCDHB12 PCDHB10 |
esv2759382 | Chr.5:140777355 - 141449115 on Build GRCh38 | Gain | PCDHB2 PCDHB8 PCDHGB1 PCDHAC1 PCDHA4 PCDHA11 PCDHA12 PCDHGA7 PCDHGA8 PCDHA3 LOC101926905 PCDHGA2 PCDHB1 PCDHB4 PCDHGB4 PCDHB10 PCDHGB7 PCDHGB5 PCDHB3 PCDHA10 PCDHB9 PCDHB12 PCDHA8 PCDHB17P PCDHB7 PCDHB6 PCDHGA5 PCDHB13 TAF7 PCDHAC2 PCDHB19P PCDHB11 PCDHGA11 PCDHA9 PCDHB14 PCDHB18P PCDHB15 PCDHGA6 PCDHGB8P PCDHA5 SLC25A2 PCDHGB6 PCDHGA3 PCDHGA12 PCDHA2 PCDHB16 PCDHA13 PCDHGA1 PCDHGA10 PCDHA6 PCDHGA4 PCDHGB3 PCDHA7 PCDHGA9 PCDHB5 PCDHGB2 PCDHA1 |
esv3606974 | Chr.5:141203379 - 141210938 on Build GRCh38 | Gain | PCDHB12 |
nsv969261 | Chr.5:141199392 - 141210803 on Build GRCh38 | Duplication | PCDHB11 PCDHB12 |
nsv823266 | Chr.5:141156966 - 141222863 on Build GRCh38 | Gain | PCDHB11 PCDHB8 PCDHB13 PCDHB16 PCDHB17P PCDHB14 PCDHB7 PCDHB9 PCDHB12 PCDHB10 |
esv2730846 | Chr.5:141193679 - 141210136 on Build GRCh38 | Deletion | PCDHB11 PCDHB12 PCDHB10 |
nsv1024594 | Chr.5:141167591 - 141243953 on Build GRCh38 | Loss | PCDHB11 PCDHB8 PCDHB13 PCDHB16 PCDHB14 PCDHB18P PCDHB7 PCDHB9 PCDHB12 PCDHB19P PCDHB10 |
nsv471634 | Chr.5:141106394 - 141258375 on Build GRCh38 | Gain+Loss | PCDHB8 PCDHB13 PCDHB16 PCDHB9 PCDHB12 PCDHB19P PCDHB11 PCDHB4 PCDHB17P PCDHB14 PCDHB18P PCDHB15 PCDHB5 PCDHB7 PCDHB6 PCDHB10 |
nsv428127 | Chr.5:141016768 - 141319173 on Build GRCh38 | Loss | PCDHB2 PCDHB8 SLC25A2 PCDHB13 TAF7 PCDHB16 PCDHB3 PCDHB9 PCDHB12 PCDHB19P PCDHB11 LOC101926905 PCDHB1 PCDHB4 PCDHB17P PCDHB14 PCDHB18P PCDHB15 PCDHB5 PCDHB7 PCDHB6 PCDHB10 |
esv2664767 | Chr.5:141177668 - 141213756 on Build GRCh38 | Deletion | PCDHB11 PCDHB8 PCDHB16 PCDHB9 PCDHB12 PCDHB10 |
dgv958e201 | Chr.5:141174165 - 141215536 on Build GRCh38 | Deletion | PCDHB11 PCDHB8 PCDHB13 PCDHB16 PCDHB7 PCDHB9 PCDHB12 PCDHB10 |
nsv599908 | Chr.5:141139584 - 141250122 on Build GRCh38 | Loss | PCDHB8 PCDHB13 PCDHB16 PCDHB9 PCDHB12 PCDHB19P PCDHB11 PCDHB17P PCDHB14 PCDHB18P PCDHB15 PCDHB7 PCDHB6 PCDHB10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |