Assay Details
Target Gene Details
Entrez Gene ID: | 1280 |
Gene Name: | collagen type II alpha 1 chain |
Gene Aliases: |
ANFH, AOM, COL11A3, SEDC, STL1 |
Location: |
Chr.12:47972965-48006212 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 46 - Exon 47 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| COL2A1 | NM_001844.4 | NP_001835.3 | ||
| NM_033150.2 | NP_149162.2 | |||
| XM_017018828.1 | XP_016874317.1 | |||
| XM_017018829.1 | XP_016874318.1 | |||
| XM_017018830.1 | XP_016874319.1 | |||
| XM_017018831.1 | XP_016874320.1 | |||
| AL834148.1 | CAI46208.1 | |||
| BC116449.1 | ||||
| X13783.1 | CAA32030.1 | |||
| X16468.1 | CAA34488.1 | |||
| X16711.1 | CAA34683.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv832401 | Chr.12:47953670 - 48084216 on Build GRCh38 | Loss |
|
| nsv519659 | Chr.12:47972666 - 47995462 on Build GRCh38 | Loss |
|
| nsv558789 | Chr.12:47974758 - 47983086 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map