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