Hs03371686_cn

• Gene Symbol: GJC2
• Assay Reference Genome Location: Chr.1:228152932 on build GRCh38
• Cytoband: 1q42.13

Target Gene Details

• Entrez Gene ID: 57165
• Gene Name: gap junction protein gamma 2
• Gene Aliases: CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44
• Location: Chr.1:228149714-228159826 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJC2	NM_020435.3			NP_065168.2
	BC035840.1			AAH35840.1
	BC089439.1			AAH89439.1
	CF132637.1
	EU433401.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952137	Chr.1:228140600 - 228182899 on Build GRCh38	Deletion	IBA57 GJC2 GUK1 IBA57-AS1
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	IBA57 HIST3H2BB MIR5008 LOC101060022 SNAP47 OBSCN PRSS38 JMJD4 C1orf145 MIR4666A GUK1 IBA57-AS1 MIR3620 MRPL55 WNT3A ARF1 LOC100506571 HIST3H3 LOC105373289 HIST3H2A LOC101927401 MIR6742 GJC2 TRIM11 C1orf35 WNT9A RNF187 LOC107985355 TRIM17
nsv1160102	Chr.1:228081212 - 228239280 on Build GRCh38	Deletion	MIR3620 MRPL55 IBA57 C1orf145 ARF1 OBSCN GJC2 GUK1 C1orf35 IBA57-AS1
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	RNA5S4 OBSCN RNA5S15 RNA5S7 RNA5S6 DUSP5P1 GUK1 IBA57-AS1 WNT3A RNA5S10 BTNL10 HIST3H2A MIR6742 GJC2 TRIM11 C1orf35 WNT9A RNA5S13 RNA5S11 IBA57 HIST3H2BB MIR5008 LOC101060022 SNAP47 PRSS38 RNA5S16 JMJD4 C1orf145 MIR4666A LOC105373132 RNA5S9 RNA5S1 RNA5S14 MIR3620 MRPL55 RNA5S12 RNA5S17 ARF1 LOC100506571 HIST3H3 RNA5S8 LOC105373289 RNA5S2 LOC101927401 RNA5S3 RNA5S5 RHOU RNF187 LOC107985355 TRIM17
nsv827019	Chr.1:228126466 - 228463319 on Build GRCh38	Loss	IBA57 HIST3H2BB OBSCN HIST3H3 C1orf145 MIR4666A HIST3H2A LOC101927401 MIR6742 GJC2 TRIM11 GUK1 TRIM17 IBA57-AS1
nsv523935	Chr.1:227850423 - 228494048 on Build GRCh38	Loss	IBA57 HIST3H2BB MIR5008 LOC101060022 OBSCN C1orf145 MIR4666A GUK1 IBA57-AS1 MIR3620 MRPL55 WNT3A ARF1 LOC100506571 HIST3H3 HIST3H2A LOC101927401 MIR6742 GJC2 TRIM11 C1orf35 WNT9A RNF187 LOC107985355 TRIM17
dgv839n54	Chr.1:228139958 - 228183397 on Build GRCh38	Loss	IBA57 GJC2 GUK1 IBA57-AS1
nsv549290	Chr.1:228145951 - 228162105 on Build GRCh38	Loss	GJC2 GUK1
nsv549291	Chr.1:228151238 - 228163073 on Build GRCh38	Loss	GJC2

More Information

Additional Information:

For this assay, SNP(s) [rs74142606,rs75396807] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

cell-cell signaling
response to toxic substance
transmembrane transport

Function(s)

gap junction channel activity