Assay Details
Target Gene Details
Entrez Gene ID: | 10133 |
Gene Name: | optineurin |
Gene Aliases: |
ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP |
Location: |
Chr.10:13100082-13138276 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OPTN | NM_001008211.1 | 13 | 1746 | NP_001008212.1 |
NM_001008212.1 | 12 | 1677 | NP_001008213.1 | |
NM_001008213.1 | 13 | 1731 | NP_001008214.1 | |
NM_021980.4 | 11 | 1525 | NP_068815.2 | |
AF049614.1 | 1 | 62 | AAC26850.1 | |
AF061034.1 | 13 | 1619 | AAC16046.1 | |
AF420371.1 | 13 | 1603 | AAL76327.1 | |
AF420372.1 | 11 | 1382 | AAL76328.1 | |
AF420373.1 | 12 | 1534 | AAL76329.1 | |
AK055403.1 | 12 | 1966 | ||
AK122746.1 | 3 | 1418 | ||
AK303715.1 | 11 | 1543 | ||
AK316171.1 | 11 | 1565 | ||
BC013876.2 | 11 | 1438 | AAH13876.1 | |
BC032762.1 | 13 | 1633 | AAH32762.1 | |
KU178502.1 | 10 | 1293 | ||
KU178503.1 | ||||
KU178504.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2762845 | Chr.10:13087065 - 13142762 on Build GRCh38 | Loss | CCDC3 OPTN |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |