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