Assay Details
Target Gene Details
Entrez Gene ID: | 64773 |
Gene Name: | PC-esterase domain containing 1A |
Gene Aliases: |
C20orf81, FAM113A, bA12M19.1 |
Location: |
Chr.20:2835314-2841243 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCED1A | NM_001271168.1 | NP_001258097.1 | ||
NM_022760.4 | 4 | 840 | NP_073597.2 | |
XM_005260804.2 | 4 | 726 | XP_005260861.1 | |
XM_005260805.2 | XP_005260862.1 | |||
XM_005260806.3 | 4 | 773 | XP_005260863.1 | |
AK026029.1 | BAB15328.1 | |||
AK056353.1 | 4 | 824 | BAB71160.1 | |
AK126535.1 | 1 | 641 | ||
AK293638.1 | 3 | 722 | ||
AY211913.1 | 2 | 166 | AAO65166.1 | |
BC014247.2 | AAH14247.1 | |||
BC037240.1 | 4 | 446 | AAH37240.2 | |
BC051816.1 | 4 | 628 | AAH51816.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3645020 | Chr.20:2816405 - 2926274 on Build GRCh38 | Gain | PTPRA VPS16 PCED1A TMEM239 |
nsv1057464 | Chr.20:2650623 - 2989686 on Build GRCh38 | Gain | EBF4 PTPRA SNORD110 SNORA51 VPS16 PCED1A TMEM239 CPXM1 SNORD56 C20orf141 MIR1292 SNORD57 SNORD86 IDH3B NOP56 |
nsv522009 | Chr.20:2745032 - 3030542 on Build GRCh38 | Gain | EBF4 PTPRA VPS16 C20orf141 PCED1A TMEM239 CPXM1 |
nsv833895 | Chr.20:2730164 - 2882236 on Build GRCh38 | Loss | EBF4 PTPRA VPS16 C20orf141 PCED1A TMEM239 CPXM1 |
nsv952978 | Chr.20:2835355 - 2842754 on Build GRCh38 | Deletion | VPS16 PCED1A |
nsv3261 | Chr.20:2820663 - 2851754 on Build GRCh38 | Deletion | VPS16 PCED1A |
esv2762056 | Chr.20:2740745 - 2944353 on Build GRCh38 | Gain | EBF4 PTPRA VPS16 C20orf141 PCED1A TMEM239 CPXM1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |