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