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

Chr.1:228159048 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01821129_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 1603 NP_065168.2
AY285161.1 AAP37488.1
BC089439.1 2 1603 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-AS1 GUK1 GJC2 IBA57
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR3620 LOC105373289 LOC101060022 LOC100506571 WNT9A TRIM11 MIR5008 WNT3A MRPL55 GUK1 IBA57 MIR4666A TRIM17 HIST3H3 RNF187 LOC107985355 IBA57-AS1 MIR6742 HIST3H2BB LOC101927401 PRSS38 OBSCN SNAP47 C1orf145 HIST3H2A GJC2 C1orf35 ARF1 JMJD4
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion C1orf145 IBA57-AS1 MRPL55 GUK1 MIR3620 GJC2 IBA57 C1orf35 ARF1 OBSCN
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain MIR3620 RNA5S17 RNA5S3 RNA5S9 RNA5S13 RNA5S2 TRIM11 WNT3A MRPL55 RNA5S10 MIR4666A DUSP5P1 BTNL10 RNA5S8 RNF187 IBA57-AS1 RNA5S5 LOC105373132 HIST3H2BB PRSS38 SNAP47 GJC2 RNA5S4 ARF1 JMJD4 LOC105373289 LOC101060022 LOC100506571 WNT9A RNA5S6 MIR5008 RNA5S16 GUK1 RNA5S15 IBA57 TRIM17 HIST3H3 LOC107985355 RHOU MIR6742 RNA5S7 RNA5S1 LOC101927401 RNA5S14 OBSCN C1orf145 HIST3H2A C1orf35 RNA5S12 RNA5S11
nsv827031 Chr.1:228156381 - 228162089 on Build GRCh38 Gain GJC2
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss IBA57-AS1 MIR6742 HIST3H2BB LOC101927401 OBSCN TRIM11 C1orf145 GUK1 HIST3H2A GJC2 IBA57 MIR4666A TRIM17 HIST3H3
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR3620 LOC101060022 LOC100506571 WNT9A TRIM11 MIR5008 WNT3A MRPL55 GUK1 IBA57 MIR4666A TRIM17 HIST3H3 RNF187 LOC107985355 IBA57-AS1 MIR6742 HIST3H2BB LOC101927401 OBSCN C1orf145 HIST3H2A GJC2 C1orf35 ARF1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57-AS1 GUK1 GJC2 IBA57
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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