Hs00800226_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140847836 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 56147
• Gene Name: protocadherin alpha 1
• Gene Aliases: PCDH-ALPHA1
• Location: Chr.5:140786136-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA1	NM_018900.3			NP_061723.1
	NM_031411.2			NP_113599.1
	AF152305.1			AAD43699.1
	AF169695.1			AAF89692.1

Target Gene Details

• Entrez Gene ID: 56146
• Gene Name: protocadherin alpha 2
• Gene Aliases: PCDH-ALPHA2
• Location: Chr.5:140794859-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	AF152310.1			AAD43704.1

Target Gene Details

• Entrez Gene ID: 56145
• Gene Name: protocadherin alpha 3
• Gene Aliases: PCDH-ALPHA3
• Location: Chr.5:140801198-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2			NP_061729.1
	AF152311.1			AAD43705.1

Target Gene Details

• Entrez Gene ID: 56144
• Gene Name: protocadherin alpha 4
• Gene Aliases: CNR1, CNRN1, CRNR1, PCDH-ALPHA4
• Location: Chr.5:140807074-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA4	NM_018907.3			NP_061730.1
	AB208925.1			BAD92162.1
	AF152312.1			AAD43706.1

Target Gene Details

• Entrez Gene ID: 56143
• Gene Name: protocadherin alpha 5
• Gene Aliases: CNR6, CNRN6, CNRS6, CRNR6, PCDH-ALPHA5
• Location: Chr.5:140821776-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA5	NM_018908.2			NP_061731.1
	AB208863.1			BAD92100.1
	AF152313.1			AAD43707.1
	BC033735.1			AAH33735.1

Target Gene Details

• Entrez Gene ID: 56142
• Gene Name: protocadherin alpha 6
• Gene Aliases: CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6
• Location: Chr.5:140827922-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA6	NM_018909.3			NP_061732.1
	NM_031849.2			NP_114037.1
	AB209205.1			BAD92442.1
	AF152314.1			AAD43708.1
	AF169694.1			AAF89691.1
	BC036674.2			AAH36674.1

Target Gene Details

• Entrez Gene ID: 56141
• Gene Name: protocadherin alpha 7
• Gene Aliases: CNR4, CNRN4, CNRS4, CRNR4, PCDH-ALPHA7
• Location: Chr.5:140834384-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA7	NM_018910.2			NP_061733.1
	AF152315.1			AAD43709.1

Target Gene Details

• Entrez Gene ID: 56140
• Gene Name: protocadherin alpha 8
• Gene Aliases: PCDH-ALPHA8
• Location: Chr.5:140841322-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA8	NM_018911.2			NP_061734.1
	AF152316.1			AAD43710.1

Target Gene Details

• Entrez Gene ID: 9752
• Gene Name: protocadherin alpha 9
• Gene Aliases: PCDH-ALPHA9
• Location: Chr.5:140847772-141012344 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA9	NM_014005.4	1	65	NP_054724.1
	NM_031857.1	1	65	NP_114063.1
	AB002343.1	1	65
	AJ007610.1	1	374	CAC22257.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv599839	Chr.5:140837299 - 140848579 on Build GRCh38	Gain	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv819207	Chr.5:140842721 - 140859461 on Build GRCh38	Gain	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
esv33939	Chr.5:140837491 - 140859238 on Build GRCh38	Gain+Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv1651e212	Chr.5:140838196 - 140852242 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv10753	Chr.5:140842575 - 140859579 on Build GRCh38	Gain	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHB19P PCDHGA8 PCDHGA2 PCDHAC1 PCDHGA6 PCDHB10 PCDHA6 PCDHA1 PCDHB7 PCDHGA12 PCDHGA9 PCDHGA7 PCDHA3 PCDHGB6 PCDHGA11 PCDHGB3 PCDHB8 PCDHA9 PCDHA5 PCDHB5 PCDHB1 PCDHB11 PCDHGB2 PCDHB4 TAF7 PCDHGA3 PCDHA12 PCDHA4 PCDHB13 PCDHAC2 LOC101926905 PCDHGB5 PCDHB15 PCDHA11 PCDHA10 PCDHA8 PCDHGA5 PCDHA7 SLC25A2 PCDHB16 PCDHA2 PCDHGA1 PCDHGB8P PCDHGB1 PCDHGA4 PCDHGB7 PCDHB3 PCDHGB4 PCDHB17P PCDHB9 PCDHB6 PCDHB2 PCDHB14 PCDHB18P PCDHA13 PCDHB12 PCDHGA10
nsv950415	Chr.5:140844016 - 140847815 on Build GRCh38	Duplication	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv138e203	Chr.5:140838209 - 140874533 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA11 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv1653e212	Chr.5:140839141 - 140874132 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA11 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv1133616	Chr.5:140842215 - 140848715 on Build GRCh38	Deletion	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
esv3606958	Chr.5:140842689 - 140859762 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv442962	Chr.5:140844251 - 140864171 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
esv3566721	Chr.5:140840563 - 140861415 on Build GRCh38	Deletion	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv514324	Chr.5:140844231 - 140859031 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv971n67	Chr.5:140842564 - 140859431 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv724n27	Chr.5:140847633 - 140852761 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv1024237	Chr.5:140810775 - 140852242 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv1043e199	Chr.5:140842260 - 140861207 on Build GRCh38	Deletion	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv3182n106	Chr.5:140842552 - 140859353 on Build GRCh38	Deletion	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
esv2730839	Chr.5:140842540 - 140859393 on Build GRCh38	Deletion	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA3 VTRNA1-2 VTRNA1-3 PCDHA9 HARS2 PCDHA11 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1 HARS PCDHA7 PCDHA2 VTRNA1-1 PCDHA4 ZMAT2
esv2861013	Chr.5:140834461 - 140848573 on Build GRCh38	Duplication	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
nsv599841	Chr.5:140841349 - 140856513 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv10094n54	Chr.5:140846323 - 140860465 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv10092n54	Chr.5:140835344 - 140850785 on Build GRCh38	Loss	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1
esv29977	Chr.5:140843471 - 140856955 on Build GRCh38	Gain	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA10 PCDHA5 PCDHA8 PCDHA6 PCDHA1
dgv1044e199	Chr.5:140843360 - 140849907 on Build GRCh38	Deletion	PCDHA3 PCDHA7 PCDHA2 PCDHA9 PCDHA4 PCDHA5 PCDHA8 PCDHA6 PCDHA1

More Information

Additional Information:

For this assay, SNP(s) [rs73280584] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

cell adhesion
homophilic cell adhesion via plasma membrane adhesion molecules
nervous system development

Function(s)

calcium ion binding
protein binding