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

Chr.1:228158478 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01566257_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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJC2 NM_020435.3 2 1033 NP_065168.2
AY285161.1 1 711 AAP37488.1
BC035840.1 2 787 AAH35840.1
BC089439.1 2 1033 AAH89439.1

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 GJC2 IBA57-AS1 IBA57 GUK1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain TRIM17 HIST3H3 IBA57-AS1 GJC2 IBA57 OBSCN HIST3H2BB MIR5008 WNT9A TRIM11 MRPL55 PRSS38 LOC101927401 GUK1 MIR6742 RNF187 C1orf145 C1orf35 SNAP47 LOC107985355 MIR3620 WNT3A MIR4666A HIST3H2A LOC100506571 JMJD4 ARF1 LOC105373289 LOC101060022
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion MIR3620 MRPL55 GJC2 IBA57-AS1 ARF1 IBA57 GUK1 OBSCN C1orf145 C1orf35
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain HIST3H3 IBA57-AS1 RNA5S17 BTNL10 GJC2 OBSCN MIR5008 WNT9A RNA5S14 TRIM11 RNA5S5 MRPL55 RNA5S9 RNA5S7 PRSS38 LOC101927401 GUK1 MIR6742 RNF187 C1orf145 SNAP47 LOC107985355 MIR3620 WNT3A HIST3H2A ARF1 RNA5S6 LOC105373132 TRIM17 RNA5S2 RNA5S4 RNA5S1 RNA5S12 RNA5S15 RNA5S11 IBA57 HIST3H2BB RHOU RNA5S3 RNA5S8 C1orf35 DUSP5P1 RNA5S16 RNA5S13 MIR4666A LOC100506571 JMJD4 RNA5S10 LOC105373289 LOC101060022
nsv827031 Chr.1:228156381 - 228162089 on Build GRCh38 Gain GJC2
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss TRIM11 TRIM17 HIST3H3 IBA57-AS1 LOC101927401 GUK1 MIR6742 C1orf145 MIR4666A HIST3H2A GJC2 IBA57 OBSCN HIST3H2BB
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss TRIM17 HIST3H3 IBA57-AS1 GJC2 IBA57 OBSCN HIST3H2BB MIR5008 WNT9A TRIM11 MRPL55 LOC101927401 GUK1 MIR6742 RNF187 C1orf145 C1orf35 LOC107985355 MIR3620 WNT3A MIR4666A HIST3H2A LOC100506571 ARF1 LOC101060022
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GJC2 IBA57-AS1 IBA57 GUK1
nsv549290 Chr.1:228145951 - 228162105 on Build GRCh38 Loss GJC2 GUK1
nsv549291 Chr.1:228151238 - 228163073 on Build GRCh38 Loss GJC2
dgv105n67 Chr.1:228157036 - 228160245 on Build GRCh38 Gain GJC2

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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