Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATATGAAATCCCTGCAAGTTCCTTC[A/G]TCTTTCGGCAACTTGCATATATCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 120250 | ||||||||||||||||||||
Literature Links: |
COL6A3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
COL6A3 - collagen type VI alpha 3 chain | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004369.3 | 7815 | Silent Mutation | GAC,GAT | D,D 3117 | NP_004360.2 | |
NM_057164.4 | 7815 | Intron | NP_476505.3 | |||
NM_057165.4 | 7815 | Intron | NP_476506.3 | |||
NM_057166.4 | 7815 | Silent Mutation | GAC,GAT | D,D 2510 | NP_476507.3 | |
NM_057167.3 | 7815 | Silent Mutation | GAC,GAT | D,D 2911 | NP_476508.2 | |
XM_005246065.1 | 7815 | Silent Mutation | GAC,GAT | D,D 2917 | XP_005246122.1 | |
XM_005246066.1 | 7815 | Silent Mutation | GAC,GAT | D,D 2710 | XP_005246123.1 | |
XM_006712253.1 | 7815 | Silent Mutation | GAC,GAT | D,D 2950 | XP_006712316.1 | |
XM_011510574.1 | 7815 | Silent Mutation | GAC,GAT | D,D 3116 | XP_011508876.1 | |
XM_017003303.1 | 7815 | Silent Mutation | GAC,GAT | D,D 2911 | XP_016858792.1 | |
XM_017003304.1 | 7815 | Silent Mutation | GAC,GAT | D,D 2315 | XP_016858793.1 |