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-AS1 IBA57 GUK1 GJC2 |
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | IBA57-AS1 IBA57 MIR3620 C1orf145 MRPL55 C1orf35 GUK1 ARF1 GJC2 OBSCN |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR4666A ARF1 LOC100506571 WNT3A LOC105373289 JMJD4 IBA57-AS1 MIR3620 C1orf145 MRPL55 GUK1 WNT9A LOC107985355 HIST3H3 LOC101927401 TRIM17 IBA57 PRSS38 TRIM11 GJC2 MIR6742 OBSCN SNAP47 MIR5008 HIST3H2BB LOC101060022 C1orf35 RNF187 HIST3H2A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S8 DUSP5P1 ARF1 WNT3A IBA57-AS1 RNA5S15 MIR3620 C1orf145 MRPL55 GUK1 WNT9A RNA5S7 LOC107985355 HIST3H3 LOC101927401 RNA5S14 RNA5S4 RNA5S12 TRIM11 RNA5S11 GJC2 RNA5S3 RHOU OBSCN SNAP47 HIST3H2BB LOC101060022 RNA5S2 HIST3H2A MIR4666A RNA5S16 LOC100506571 RNA5S10 LOC105373289 JMJD4 RNA5S13 RNA5S17 TRIM17 IBA57 PRSS38 RNA5S5 MIR6742 RNA5S1 RNA5S6 BTNL10 MIR5008 RNA5S9 C1orf35 RNF187 LOC105373132 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | LOC101927401 MIR4666A TRIM17 IBA57 TRIM11 GJC2 MIR6742 OBSCN IBA57-AS1 HIST3H2BB C1orf145 GUK1 HIST3H2A HIST3H3 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | MIR4666A ARF1 LOC100506571 WNT3A IBA57-AS1 MIR3620 C1orf145 MRPL55 GUK1 WNT9A LOC107985355 HIST3H3 LOC101927401 TRIM17 IBA57 TRIM11 GJC2 MIR6742 OBSCN MIR5008 HIST3H2BB LOC101060022 C1orf35 RNF187 HIST3H2A |
dgv839n54 | Chr.1:228139958 - 228183397 on Build GRCh38 | Loss | IBA57-AS1 IBA57 GUK1 GJC2 |
nsv549291 | Chr.1:228151238 - 228163073 on Build GRCh38 | Loss | GJC2 |
nsv549290 | Chr.1:228145951 - 228162105 on Build GRCh38 | Loss | GUK1 GJC2 |
More Information
Additional Information:
For this assay, SNP(s) [rs74142606,rs75396807] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |