Assay Details
Target Gene Details
Entrez Gene ID: | 201627 |
Gene Name: | DENN domain containing 6A |
Gene Aliases: |
AFI1A, FAM116A |
Location: |
Chr.3:57625454-57693118 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DENND6A | NM_152678.2 | 20 | 3899 | NP_689891.1 |
XM_006713019.3 | 20 | 3925 | XP_006713082.1 | |
XM_006713020.2 | 21 | 4131 | XP_006713083.1 | |
XM_017005864.1 | 21 | 4134 | XP_016861353.1 | |
AK074156.1 | 20 | 3886 | ||
AK092288.1 | 16 | 1811 | BAC03852.1 | |
BC040291.1 | 20 | 3887 | AAH40291.1 |
Target Gene Details
Entrez Gene ID: | 201626 |
Gene Name: | phosphodiesterase 12 |
Gene Aliases: |
2'-PDE, 2-PDE |
Location: |
Chr.3:57556247-57656480 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDE12 | NM_001322176.1 | NP_001309105.1 | ||
BM713922.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3596235 | Chr.3:57626005 - 57627619 on Build GRCh38 | Loss | PDE12 DENND6A |
nsv1008684 | Chr.3:57537986 - 57766490 on Build GRCh38 | Gain | ARF4 PDE12 DENND6A DNAH12 SLMAP LOC101929159 ARF4-AS1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |