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 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCED1A | NM_001271168.1 | 8 | 1686 | NP_001258097.1 |
NM_022760.4 | 8 | 1953 | NP_073597.2 | |
XM_005260804.2 | 8 | 1839 | XP_005260861.1 | |
XM_005260805.2 | 8 | 1733 | XP_005260862.1 | |
XM_005260806.3 | 7 | 1610 | XP_005260863.1 | |
AA769290.1 | 1 | 89 | ||
AK026029.1 | 8 | 1594 | BAB15328.1 | |
AK056353.1 | 8 | 1937 | BAB71160.1 | |
AK124917.1 | 2 | 2471 | ||
AK126535.1 | 3 | 3788 | ||
AK293638.1 | 7 | 1835 | ||
AL442086.1 | 1 | 2207 | ||
BC014247.2 | 8 | 1314 | AAH14247.1 | |
BC037240.1 | 8 | 1559 | AAH37240.2 | |
BC051816.1 | 8 | 1741 | 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 TMEM239 PCED1A |
nsv1057464 | Chr.20:2650623 - 2989686 on Build GRCh38 | Gain | SNORA51 PTPRA MIR1292 SNORD56 EBF4 NOP56 PCED1A CPXM1 VPS16 SNORD57 TMEM239 C20orf141 SNORD110 SNORD86 IDH3B |
nsv522009 | Chr.20:2745032 - 3030542 on Build GRCh38 | Gain | CPXM1 PTPRA VPS16 TMEM239 C20orf141 EBF4 PCED1A |
nsv833895 | Chr.20:2730164 - 2882236 on Build GRCh38 | Loss | CPXM1 PTPRA VPS16 TMEM239 C20orf141 EBF4 PCED1A |
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 | CPXM1 PTPRA VPS16 TMEM239 C20orf141 EBF4 PCED1A |
More Information
Additional Information:
For this assay, SNP(s) [rs118136838,rs74973574] 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 Exonic DGV Variation |