Assay Details
Target Gene Details
Entrez Gene ID: | 56114 |
Gene Name: | protocadherin gamma subfamily A, 1 |
Gene Aliases: |
PCDH-GAMMA-A1 |
Location: |
Chr.5:141330685-141512979 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCDHGA1 | NM_018912.2 | NP_061735.1 | ||
AF152318.1 | AAD43712.1 |
Target Gene Details
Entrez Gene ID: | 56113 |
Gene Name: | protocadherin gamma subfamily A, 2 |
Gene Aliases: |
PCDH-GAMMA-A2 |
Location: |
Chr.5:141338760-141512979 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCDHGA2 | NM_018915.3 | NP_061738.1 | ||
AF152322.1 | AAD43716.1 |
Target Gene Details
Entrez Gene ID: | 56112 |
Gene Name: | protocadherin gamma subfamily A, 3 |
Gene Aliases: |
PCDH-GAMMA-A3 |
Location: |
Chr.5:141344034-141512979 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCDHGA3 | NM_018916.3 | 1 | 327 | NP_061739.2 |
NM_032011.1 | 1 | 327 | NP_114400.1 | |
AB208927.1 | 1 | 493 | BAD92164.1 | |
AF152323.1 | 1 | 327 | AAD43717.1 | |
AF152510.1 | 1 | 327 | AAD43770.1 | |
BC115408.1 | 1 | 327 | ||
BC115409.1 | 1 | 327 | ||
BC133708.1 | 1 | 325 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3606980 | Chr.5:141341467 - 141345266 on Build GRCh38 | Loss | PCDHGA2 PCDHGA3 PCDHGA1 |
esv2759382 | Chr.5:140777355 - 141449115 on Build GRCh38 | Gain | PCDHA3 PCDHA10 PCDHGA3 PCDHGA10 PCDHB9 PCDHGB7 PCDHB13 LOC101926905 PCDHGA11 PCDHB15 PCDHGA1 PCDHA7 PCDHGA4 PCDHA8 PCDHB16 PCDHB5 PCDHGB1 PCDHB3 PCDHGA9 PCDHGB6 PCDHB17P PCDHB12 PCDHB7 PCDHB8 PCDHB10 PCDHB2 PCDHA2 PCDHB4 PCDHGA6 PCDHB19P PCDHA11 PCDHA13 PCDHA9 PCDHB1 PCDHGA12 PCDHA5 PCDHA6 PCDHGA7 PCDHAC1 PCDHA1 PCDHB11 PCDHAC2 PCDHGB8P PCDHA12 PCDHGA5 PCDHGB4 PCDHB14 TAF7 PCDHB6 PCDHGA2 PCDHGB3 PCDHGA8 PCDHGB2 PCDHGB5 PCDHA4 PCDHB18P SLC25A2 |
esv3570470 | Chr.5:141337905 - 141348151 on Build GRCh38 | Loss | PCDHGA2 PCDHGA3 PCDHGA1 |
nsv599922 | Chr.5:141341879 - 141416532 on Build GRCh38 | Loss | PCDHGA6 PCDHGA5 PCDHGB4 PCDHGA3 PCDHGA10 PCDHGB1 PCDHGA9 PCDHGB6 PCDHGA2 PCDHGB3 PCDHGA8 PCDHGB2 PCDHGB5 PCDHGA7 PCDHGA1 PCDHGA4 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |