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