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 | 2687 | NP_061755.1 |
AF217746.1 | 1 | 2498 | AAK51614.1 | |
AK293336.1 | 2 | 1831 | ||
AK316160.1 | 2 | 1939 | ||
BC045637.1 | 1 | 2687 | 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 | PCDHB9 PCDHB11 PCDHB10 PCDHB12 PCDHB16 |
esv2759382 | Chr.5:140777355 - 141449115 on Build GRCh38 | Gain | PCDHGA4 PCDHGA6 PCDHGB7 SLC25A2 PCDHA10 PCDHA1 PCDHGB6 PCDHB6 LOC101926905 PCDHGB4 PCDHB16 PCDHAC2 PCDHB8 PCDHGA12 TAF7 PCDHA3 PCDHA6 PCDHA7 PCDHA9 PCDHB14 PCDHGB2 PCDHB15 PCDHB12 PCDHGB5 PCDHGA11 PCDHGA5 PCDHB7 PCDHB13 PCDHB4 PCDHGA3 PCDHB1 PCDHGA2 PCDHB19P PCDHGA1 PCDHB5 PCDHGB1 PCDHA13 PCDHA5 PCDHB17P PCDHGA9 PCDHAC1 PCDHA8 PCDHB3 PCDHB11 PCDHA4 PCDHGA8 PCDHB10 PCDHA11 PCDHGA10 PCDHA2 PCDHA12 PCDHB9 PCDHGB3 PCDHB2 PCDHGB8P PCDHGA7 PCDHB18P |
nsv823266 | Chr.5:141156966 - 141222863 on Build GRCh38 | Gain | PCDHB9 PCDHB8 PCDHB14 PCDHB11 PCDHB7 PCDHB10 PCDHB17P PCDHB12 PCDHB13 PCDHB16 |
nsv980737 | Chr.5:141209299 - 141211497 on Build GRCh38 | Duplication | PCDHB12 |
nsv1024594 | Chr.5:141167591 - 141243953 on Build GRCh38 | Loss | PCDHB9 PCDHB8 PCDHB14 PCDHB11 PCDHB19P PCDHB7 PCDHB10 PCDHB12 PCDHB13 PCDHB18P PCDHB16 |
nsv471634 | Chr.5:141106394 - 141258375 on Build GRCh38 | Gain+Loss | PCDHB8 PCDHB11 PCDHB7 PCDHB10 PCDHB13 PCDHB4 PCDHB9 PCDHB14 PCDHB19P PCDHB15 PCDHB5 PCDHB6 PCDHB17P PCDHB12 PCDHB18P PCDHB16 |
nsv428127 | Chr.5:141016768 - 141319173 on Build GRCh38 | Loss | PCDHB3 PCDHB8 PCDHB11 PCDHB7 PCDHB10 SLC25A2 TAF7 PCDHB13 PCDHB4 PCDHB9 PCDHB1 PCDHB14 PCDHB19P PCDHB15 PCDHB5 PCDHB2 PCDHB6 LOC101926905 PCDHB17P PCDHB12 PCDHB18P PCDHB16 |
esv2664767 | Chr.5:141177668 - 141213756 on Build GRCh38 | Deletion | PCDHB9 PCDHB8 PCDHB11 PCDHB10 PCDHB12 PCDHB16 |
dgv958e201 | Chr.5:141174165 - 141215536 on Build GRCh38 | Deletion | PCDHB9 PCDHB8 PCDHB11 PCDHB7 PCDHB10 PCDHB12 PCDHB13 PCDHB16 |
nsv823277 | Chr.5:141210978 - 141215570 on Build GRCh38 | Gain | PCDHB12 PCDHB13 |
nsv599908 | Chr.5:141139584 - 141250122 on Build GRCh38 | Loss | PCDHB8 PCDHB11 PCDHB7 PCDHB10 PCDHB13 PCDHB9 PCDHB14 PCDHB19P PCDHB15 PCDHB6 PCDHB17P PCDHB12 PCDHB18P PCDHB16 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |