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

Chr.1:228159448 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00252403_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 2003 NP_065168.2
BC089439.1 2 2003 AAH89439.1
BU739494.1 1 395

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