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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 Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
COMP | NM_000095.2 | 17 | 2057 | NP_000086.2 |
AB086984.1 | 17 | 2021 | BAC53888.1 | |
AK074508.1 | BAC11031.1 | |||
AK223216.1 | 17 | 2057 | BAD96936.1 | |
AK290595.1 | 17 | 2057 | ||
AK296586.1 | 16 | 1898 | ||
AK297798.1 | 16 | 1959 | ||
AK297814.1 | 16 | 2018 | ||
BC110847.1 | 17 | 2043 | AAI10848.1 | |
BC125092.1 | 17 | 2050 | ||
L32137.1 | 17 | 2046 | AAA57253.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1151217 | Chr.19:18627369 - 19284914 on Build GRCh38 | Deletion | HOMER3 UPF1 ARMC6 KLHL26 RFXANK GDF1 CERS1 COMP CRTC1 TM6SF2 BORCS8 LOC102724360 BORCS8-MEF2B SLC25A42 NR2C2AP NCAN HAPLN4 SUGP2 SUGP1 TMEM161A COPE DDX49 MEF2B |
nsv952422 | Chr.19:18606691 - 18807891 on Build GRCh38 | Deletion | KLHL26 TMEM59L CRLF1 COMP CRTC1 |
nsv833777 | Chr.19:18765126 - 18920267 on Build GRCh38 | Loss | UPF1 GDF1 CERS1 COMP CRTC1 COPE DDX49 |
Set Membership: |
Intragenic Exonic DGV Variation |