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

Chr.1:228151918 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03365335_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 GJC2 IBA57-AS1 IBA57 GUK1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion MRPL55 OBSCN GJC2 IBA57-AS1 C1orf35 IBA57 MIR3620 ARF1 GUK1 C1orf145
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain HIST3H3 SNAP47 TRIM17 LOC101927401 MRPL55 IBA57-AS1 LOC100506571 IBA57 MIR6742 MIR3620 PRSS38 HIST3H2BB OBSCN GJC2 TRIM11 C1orf35 LOC101060022 LOC107985355 GUK1 JMJD4 MIR4666A LOC105373289 WNT3A C1orf145 RNF187 HIST3H2A ARF1 WNT9A MIR5008
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain HIST3H3 SNAP47 MRPL55 IBA57-AS1 RNA5S5 LOC100506571 IBA57 MIR6742 LOC105373132 RNA5S7 GJC2 TRIM11 LOC101060022 RNA5S9 GUK1 JMJD4 RNA5S2 LOC105373289 C1orf145 RNA5S4 BTNL10 RNF187 RNA5S12 MIR5008 RNA5S10 RNA5S17 TRIM17 LOC101927401 RNA5S14 MIR3620 PRSS38 HIST3H2BB OBSCN C1orf35 LOC107985355 RNA5S15 MIR4666A RNA5S1 WNT3A RNA5S11 RNA5S16 RNA5S8 RNA5S3 HIST3H2A RNA5S6 ARF1 DUSP5P1 RNA5S13 RHOU WNT9A
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H3 TRIM17 LOC101927401 MIR4666A IBA57-AS1 IBA57 MIR6742 C1orf145 HIST3H2BB OBSCN GJC2 TRIM11 HIST3H2A GUK1
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss HIST3H3 TRIM17 LOC101927401 MRPL55 IBA57-AS1 LOC100506571 IBA57 MIR6742 MIR3620 HIST3H2BB OBSCN GJC2 TRIM11 C1orf35 LOC101060022 LOC107985355 GUK1 MIR4666A WNT3A C1orf145 RNF187 HIST3H2A ARF1 WNT9A MIR5008
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GJC2 IBA57-AS1 IBA57 GUK1
nsv549291 Chr.1:228151238 - 228163073 on Build GRCh38 Loss GJC2
nsv549290 Chr.1:228145951 - 228162105 on Build GRCh38 Loss GJC2 GUK1

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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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