Assay Details
Target Gene Details
Entrez Gene ID: | 100506658 |
Gene Name: | occludin |
Gene Aliases: |
BLCPMG, PPP1R115 |
Location: |
Chr.5:69492292-69558104 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OCLN | NM_001205254.1 | NP_001192183.1 | ||
NM_002538.3 | NP_002529.1 | |||
XM_017008913.1 | XP_016864402.1 | |||
XM_017008914.1 | XP_016864403.1 | |||
AK290697.1 | ||||
AK313501.1 | ||||
BC029886.1 | AAH29886.1 | |||
DB226845.1 | ||||
U49184.1 | AAC50451.1 | |||
U53823.1 | AAB00195.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3570182 | Chr.5:69457781 - 69533508 on Build GRCh38 | Loss | LOC101928924 OCLN |
nsv1034024 | Chr.5:69464444 - 69822296 on Build GRCh38 | Gain | GUSBP3 LOC101928924 LOC728488 GTF2H2C OCLN |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | AK6 SERF1B TAF9 LOC101928924 LOC728488 LOC101929599 GTF2H2B MARVELD2 GUSBP3 SMA4 SERF1A SMA5 RAD17 SMN2 LOC647859 CCDC125 CDK7 GTF2H2 GTF2H2C LOC653080 LOC107986351 OCLN LOC728526 NAIP LOC441081 SMN1 LOC107986354 |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | LOC101928924 GTF2H2C OCLN |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | AK6 BDP1 LOC102724392 SERF1B TAF9 LOC101928924 LOC728488 LOC101929599 GTF2H2B MARVELD2 LOC107986352 GUSBP3 SMA4 SERF1A SMA5 LOC107986353 RAD17 SMN2 LOC647859 GTF2H2 GTF2H2C LOC653080 LOC107986351 OCLN LOC728526 NAIP LOC441081 SMN1 GUSBP9 LOC107986354 PMCHL2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |