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

Chr.1:228150937 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03367331_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJC2 NM_020435.3 NP_065168.2
BC035840.1 AAH35840.1
BC089439.1 AAH89439.1
CF132637.1
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 IBA57-AS1 GUK1 GJC2
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain HIST3H2BB JMJD4 PRSS38 MIR4666A GJC2 IBA57 WNT3A RNF187 C1orf145 TRIM17 GUK1 MRPL55 LOC100506571 MIR5008 IBA57-AS1 MIR6742 LOC107985355 SNAP47 C1orf35 HIST3H3 LOC101060022 LOC101927401 LOC105373289 OBSCN TRIM11 MIR3620 HIST3H2A WNT9A ARF1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57 C1orf145 IBA57-AS1 OBSCN MIR3620 GUK1 ARF1 MRPL55 GJC2 C1orf35
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S9 RNA5S1 RNA5S4 GJC2 WNT3A RNF187 RNA5S14 TRIM17 GUK1 MRPL55 RNA5S11 RNA5S3 DUSP5P1 LOC107985355 HIST3H3 LOC105373132 RNA5S5 TRIM11 RNA5S13 MIR3620 WNT9A RNA5S10 BTNL10 HIST3H2BB JMJD4 PRSS38 MIR4666A IBA57 C1orf145 RNA5S2 RNA5S12 LOC100506571 MIR5008 RNA5S16 IBA57-AS1 RNA5S8 MIR6742 SNAP47 C1orf35 RNA5S15 LOC101060022 LOC101927401 LOC105373289 OBSCN RNA5S7 HIST3H2A RNA5S17 ARF1 RHOU RNA5S6
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2BB IBA57-AS1 MIR4666A MIR6742 GJC2 IBA57 HIST3H3 C1orf145 LOC101927401 OBSCN TRIM17 TRIM11 HIST3H2A GUK1
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss HIST3H2BB MIR4666A GJC2 IBA57 WNT3A RNF187 C1orf145 TRIM17 GUK1 MRPL55 LOC100506571 MIR5008 IBA57-AS1 MIR6742 LOC107985355 C1orf35 HIST3H3 LOC101060022 LOC101927401 OBSCN TRIM11 MIR3620 HIST3H2A WNT9A ARF1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 IBA57-AS1 GUK1 GJC2
nsv549290 Chr.1:228145951 - 228162105 on Build GRCh38 Loss GUK1 GJC2

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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