Search Thermo Fisher Scientific
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GTAGGTGATGTTCTGGGAGCCTTCC[A/G]TGGACAGCAGGCGTAGGAAGGTCAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120140 | ||||||||||||||||||||
Literature Links: |
COL2A1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
COL2A1 - collagen type II alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001844.4 | 5714 | Missense Mutation | ACG,ATG | T,M 1383 | NP_001835.3 | |
NM_033150.2 | 5714 | Missense Mutation | ACG,ATG | T,M 1314 | NP_149162.2 | |
XM_017018828.1 | 5714 | Missense Mutation | ACG,ATG | T,M 1431 | XP_016874317.1 | |
XM_017018829.1 | 5714 | Missense Mutation | ACG,ATG | T,M 1430 | XP_016874318.1 | |
XM_017018830.1 | 5714 | Missense Mutation | ACG,ATG | T,M 1361 | XP_016874319.1 | |
XM_017018831.1 | 5714 | Missense Mutation | ACG,ATG | T,M 1201 | XP_016874320.1 |
TMEM106C - transmembrane protein 106C | ||||||
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There are no transcripts associated with this gene. |