Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 120140 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL2A1 PubMed Links | |||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU)
|
||||||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
|
Chinese - Not Available | JPT (Japanese)
|
||||||
AFR
|
Japanese - Not Available | CHB (Han Chinese)
|
||||||
EUR
|
||||||||
AMR
|
COL2A1 - collagen type II alpha 1 chain | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001844.4 | 5779 | Missense Mutation | AGC,GGC | S,G 1405 | NP_001835.3 | |
NM_033150.2 | 5779 | Missense Mutation | AGC,GGC | S,G 1336 | NP_149162.2 | |
XM_017018828.1 | 5779 | Missense Mutation | AGC,GGC | S,G 1453 | XP_016874317.1 | |
XM_017018829.1 | 5779 | Missense Mutation | AGC,GGC | S,G 1452 | XP_016874318.1 | |
XM_017018830.1 | 5779 | Missense Mutation | AGC,GGC | S,G 1383 | XP_016874319.1 | |
XM_017018831.1 | 5779 | Missense Mutation | AGC,GGC | S,G 1223 | XP_016874320.1 |
TMEM106C - transmembrane protein 106C | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
Set Membership: |
HapMap |