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