Genomic Map
Back To TopAssay 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: | Within Exon 54 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| COL2A1 | NM_001844.4 | 51 | 3943 | NP_001835.3 |
| NM_033150.2 | 50 | 3736 | NP_149162.2 | |
| XM_017018828.1 | 53 | 4028 | XP_016874317.1 | |
| XM_017018829.1 | 53 | 4025 | XP_016874318.1 | |
| XM_017018830.1 | 52 | 3818 | XP_016874319.1 | |
| XM_017018831.1 | 51 | 5328 | XP_016874320.1 | |
| AL834148.1 | 34 | 2848 | CAI46208.1 | |
| BC007252.1 | 4 | 438 | AAH07252.1 | |
| BC116449.1 | 51 | 3764 | ||
| BT007205.1 | 1 | 105 | AAP35869.1 | |
| M63281.1 | 6 | 520 | AAA52038.1 | |
| X06268.1 | 2 | 240 | CAA29604.1 | |
| X16468.1 | 50 | 3555 | CAA34488.1 |
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 |
 LOC105369750
COL2A1
SENP1
TMEM106C
|
| nsv519659 | Chr.12:47972666 - 47995462 on Build GRCh38 | Loss |
COL2A1
|
| nsv558789 | Chr.12:47974758 - 47983086 on Build GRCh38 | Loss |
COL2A1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
Back To Top