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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCED1A | NM_001271168.1 | NP_001258097.1 | ||
NM_022760.4 | 1 | 333 | NP_073597.2 | |
XM_005260804.2 | XP_005260861.1 | |||
XM_005260805.2 | 1 | 266 | XP_005260862.1 | |
XM_005260806.3 | 1 | 266 | XP_005260863.1 | |
AK026029.1 | BAB15328.1 | |||
AK056353.1 | 1 | 317 | BAB71160.1 | |
AK293638.1 | 1 | 106 | ||
BC014247.2 | AAH14247.1 | |||
BC051816.1 | 1 | 121 | AAH51816.1 | |
BE302577.1 | ||||
DB276752.1 | ||||
DC421675.1 | 1 | 333 |
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 PCED1A VPS16 TMEM239 |
nsv1057464 | Chr.20:2650623 - 2989686 on Build GRCh38 | Gain | PCED1A NOP56 IDH3B SNORA51 VPS16 EBF4 CPXM1 PTPRA C20orf141 SNORD56 SNORD86 MIR1292 SNORD110 TMEM239 SNORD57 |
nsv522009 | Chr.20:2745032 - 3030542 on Build GRCh38 | Gain | PTPRA C20orf141 PCED1A VPS16 TMEM239 EBF4 CPXM1 |
nsv833895 | Chr.20:2730164 - 2882236 on Build GRCh38 | Loss | PTPRA C20orf141 PCED1A VPS16 TMEM239 EBF4 CPXM1 |
nsv952978 | Chr.20:2835355 - 2842754 on Build GRCh38 | Deletion | PCED1A VPS16 |
nsv3261 | Chr.20:2820663 - 2851754 on Build GRCh38 | Deletion | PCED1A VPS16 |
esv2762056 | Chr.20:2740745 - 2944353 on Build GRCh38 | Gain | PTPRA C20orf141 PCED1A VPS16 TMEM239 EBF4 CPXM1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |