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ATCCCTGCAAGTTCCTTCGTCTTTC[A/G]GCAACTTGCATATATCTTTAATAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120250 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL6A3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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COL6A3 - collagen type VI alpha 3 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004369.3 | 7808 | Missense Mutation | CCG,CTG | P,L 3115 | NP_004360.2 | |
NM_057164.4 | 7808 | Intron | NP_476505.3 | |||
NM_057165.4 | 7808 | Intron | NP_476506.3 | |||
NM_057166.4 | 7808 | Missense Mutation | CCG,CTG | P,L 2508 | NP_476507.3 | |
NM_057167.3 | 7808 | Missense Mutation | CCG,CTG | P,L 2909 | NP_476508.2 | |
XM_005246065.1 | 7808 | Missense Mutation | CCG,CTG | P,L 2915 | XP_005246122.1 | |
XM_005246066.1 | 7808 | Missense Mutation | CCG,CTG | P,L 2708 | XP_005246123.1 | |
XM_006712253.1 | 7808 | Missense Mutation | CCG,CTG | P,L 2948 | XP_006712316.1 | |
XM_011510574.1 | 7808 | Missense Mutation | CCG,CTG | P,L 3114 | XP_011508876.1 | |
XM_017003303.1 | 7808 | Missense Mutation | CCG,CTG | P,L 2909 | XP_016858792.1 | |
XM_017003304.1 | 7808 | Missense Mutation | CCG,CTG | P,L 2313 | XP_016858793.1 |