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 | OCLN LOC101928924 |
nsv1034024 | Chr.5:69464444 - 69822296 on Build GRCh38 | Gain | LOC728488 GTF2H2C OCLN LOC101928924 GUSBP3 |
nsv821643 | Chr.5:69272838 - 71076658 on Build GRCh38 | Loss | SERF1A SMA5 SMN1 LOC728526 LOC647859 SERF1B CDK7 LOC101928924 GTF2H2B LOC441081 SMA4 LOC653080 LOC107986354 MARVELD2 GTF2H2 LOC728488 GTF2H2C RAD17 SMN2 OCLN CCDC125 LOC107986351 TAF9 AK6 NAIP LOC101929599 GUSBP3 |
nsv1023116 | Chr.5:69448480 - 69571455 on Build GRCh38 | Gain | GTF2H2C OCLN LOC101928924 |
nsv428117 | Chr.5:69347454 - 71500057 on Build GRCh38 | Gain+Loss | SERF1A SMA5 GUSBP9 SMN1 LOC728526 LOC647859 SERF1B LOC107986352 LOC101928924 LOC102724392 GTF2H2B LOC441081 SMA4 LOC653080 LOC107986354 MARVELD2 PMCHL2 GTF2H2 LOC728488 GTF2H2C RAD17 SMN2 LOC107986353 OCLN LOC107986351 TAF9 BDP1 AK6 NAIP LOC101929599 GUSBP3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |