Assay Details
Target Gene Details
Entrez Gene ID: | 22850 |
Gene Name: | ADNP homeobox 2 |
Gene Aliases: |
ZNF508 |
Location: |
Chr.18:80109031-80140346 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ADNP2 | NM_014913.3 | NP_055728.1 | ||
XM_005266656.4 | XP_005266713.1 | |||
XM_011525883.2 | XP_011524185.1 | |||
AB020670.1 | ||||
AK292566.1 | ||||
BC071589.1 | AAH71589.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv3413n100 | Chr.18:80023442 - 80257174 on Build GRCh38 | Gain | PARD6G-AS1 TXNL4A RBFADN ADNP2 PARD6G RBFA |
nsv577958 | Chr.18:79925520 - 80130825 on Build GRCh38 | Gain | HSBP1L1 PQLC1 TXNL4A RBFADN ADNP2 RBFA |
nsv428359 | Chr.18:79277548 - 80255221 on Build GRCh38 | Gain | HSBP1L1 KCNG2 PARD6G-AS1 TXNL4A ADNP2 LOC107985149 LOC105376875 ATP9B LOC284241 LOC284240 CTDP1 PQLC1 RBFADN PARD6G RBFA NFATC1 |
nsv1065902 | Chr.18:78538045 - 80257174 on Build GRCh38 | Gain | HSBP1L1 KCNG2 LOC100996274 PARD6G-AS1 TXNL4A ADNP2 LOC107985149 LOC105376875 ATP9B LOC284241 LOC284240 SALL3 CTDP1 PQLC1 RBFADN PARD6G RBFA NFATC1 |
esv3643330 | Chr.18:80099479 - 80182196 on Build GRCh38 | Loss | PARD6G-AS1 ADNP2 PARD6G |
esv275287 | Chr.18:80118818 - 80133560 on Build GRCh38 | Gain+Loss | ADNP2 |
nsv1061450 | Chr.18:79703531 - 80135801 on Build GRCh38 | Gain | HSBP1L1 KCNG2 CTDP1 PQLC1 TXNL4A RBFADN ADNP2 RBFA |
dgv3414n100 | Chr.18:80110621 - 80257174 on Build GRCh38 | Gain | PARD6G-AS1 ADNP2 PARD6G |
esv3643326 | Chr.18:79799861 - 80157032 on Build GRCh38 | Loss | HSBP1L1 KCNG2 PARD6G-AS1 PQLC1 TXNL4A RBFADN ADNP2 RBFA |
More Information
Additional Information:
For this assay, SNP(s) [rs114355261] 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 |