Assay Details
Target Gene Details
Entrez Gene ID: | 5426 |
Gene Name: | DNA polymerase epsilon, catalytic subunit |
Gene Aliases: |
CRCS12, FILS, POLE1 |
Location: |
Chr.12:132623762-132687524 on Build GRCh38 |
Assay Gene Location: | Within Exon 40 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLE | NM_006231.3 | 39 | 5490 | NP_006222.2 |
XM_011534795.2 | 39 | 5485 | XP_011533097.1 | |
XM_011534797.2 | 31 | 4454 | XP_011533099.1 | |
XM_011534798.1 | 27 | 4006 | XP_011533100.1 | |
XM_011534799.2 | 39 | 5485 | XP_011533101.1 | |
XM_011534800.2 | 39 | 5485 | XP_011533102.1 | |
XM_011534802.2 | 15 | 2307 | XP_011533104.1 | |
BC007599.1 | 5 | 816 | AAH07599.1 | |
BC087613.1 | 5 | 816 | AAH87613.1 | |
BX647647.1 | 13 | 2935 | ||
L09561.1 | 39 | 5325 | AAC19148.1 | |
S60080.1 | 38 | 5207 | AAA15448.1 | |
U49356.1 | 39 | 5278 | AAA90924.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv561110 | Chr.12:132630826 - 132677497 on Build GRCh38 | Loss |
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nsv952512 | Chr.12:132192256 - 132711214 on Build GRCh38 | Deletion |
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esv2422284 | Chr.12:132604248 - 132708921 on Build GRCh38 | Deletion |
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nsv1037074 | Chr.12:132613063 - 132801953 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)