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Entrez Gene ID: | 1311 |
Gene Name: | cartilage oligomeric matrix protein |
Gene Aliases: |
EDM1, EPD1, MED, PSACH, THBS5, TSP5 |
Location: |
Chr.19:18782773-18791305 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COMP | NM_000095.2 | NP_000086.2 | ||
AB086984.1 | BAC53888.1 | |||
AK074508.1 | BAC11031.1 | |||
AK223216.1 | BAD96936.1 | |||
AK290595.1 | ||||
AK296586.1 | ||||
AK297798.1 | ||||
AK297814.1 | ||||
AU120397.1 | ||||
BC110847.1 | AAI10848.1 | |||
BC125092.1 | ||||
L32137.1 | AAA57253.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3643845 | Chr.19:18786208 - 18791888 on Build GRCh38 | Loss | COMP |
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | RFXANK TMEM161A CERS1 NCAN DDX49 COMP CRTC1 UPF1 KLHL26 COPE SUGP2 SUGP1 LOC102724360 TM6SF2 ARMC6 HOMER3 SLC25A42 BORCS8 NR2C2AP HAPLN4 GDF1 MEF2B BORCS8-MEF2B |
nsv952422 | Chr.19:18606691 - 18807891 on Build GRCh38 | Deletion | COMP CRTC1 KLHL26 TMEM59L CRLF1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | CERS1 DDX49 COMP CRTC1 UPF1 GDF1 COPE |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |