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

Chr.1:228157818 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01051316_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 2 373 NP_065168.2
AY285161.1 AAP37488.1
BC035840.1 2 127 AAH35840.1
BC089439.1 2 373 AAH89439.1
CF132637.1 2 235
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-AS1 IBA57 GUK1 GJC2
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain GUK1 C1orf35 MIR6742 IBA57-AS1 IBA57 LOC107985355 TRIM11 C1orf145 ARF1 MRPL55 LOC105373289 MIR3620 MIR4666A LOC101927401 PRSS38 HIST3H2BB JMJD4 WNT9A HIST3H3 LOC101060022 MIR5008 TRIM17 HIST3H2A RNF187 SNAP47 WNT3A GJC2 OBSCN LOC100506571
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57-AS1 IBA57 C1orf145 ARF1 GUK1 MRPL55 C1orf35 MIR3620 GJC2 OBSCN
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RHOU RNA5S10 GUK1 C1orf35 RNA5S1 LOC107985355 TRIM11 MRPL55 RNA5S16 RNA5S4 HIST3H3 LOC101060022 RNA5S14 RNA5S3 MIR5008 TRIM17 HIST3H2A RNA5S11 WNT3A GJC2 OBSCN BTNL10 RNA5S5 RNA5S12 DUSP5P1 RNA5S2 LOC105373132 RNA5S8 MIR6742 IBA57-AS1 IBA57 RNA5S6 C1orf145 RNA5S15 ARF1 LOC105373289 MIR3620 MIR4666A LOC101927401 RNA5S17 PRSS38 HIST3H2BB JMJD4 WNT9A RNA5S9 RNA5S13 RNA5S7 RNF187 SNAP47 LOC100506571
nsv827031 Chr.1:228156381 - 228162089 on Build GRCh38 Gain GJC2
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2BB GUK1 HIST3H3 MIR6742 IBA57-AS1 TRIM17 IBA57 HIST3H2A TRIM11 C1orf145 MIR4666A LOC101927401 GJC2 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss GUK1 C1orf35 MIR6742 IBA57-AS1 IBA57 LOC107985355 TRIM11 C1orf145 ARF1 MRPL55 MIR3620 MIR4666A LOC101927401 HIST3H2BB WNT9A HIST3H3 LOC101060022 MIR5008 TRIM17 HIST3H2A RNF187 WNT3A GJC2 OBSCN LOC100506571
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57-AS1 IBA57 GUK1 GJC2
nsv549290 Chr.1:228145951 - 228162105 on Build GRCh38 Loss GUK1 GJC2
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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