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See other GJC2 CNV Assays ›
Gene Symbol
GJC2
Assay Reference Genome
Location

Chr.1:228150937 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03367331_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

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

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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