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TCCTTTTCTGAACGGATCTCTTCTG[C/G]CAATTACACTAAAACATAGTGATGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610002 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL21A1 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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COL21A1 - collagen type XXI alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318751.1 | 3199 | Missense Mutation | GCC,GGC | A,G 946 | NP_001305680.1 | |
NM_001318752.1 | 3199 | Missense Mutation | GCC,GGC | A,G 943 | NP_001305681.1 | |
NM_001318753.1 | 3199 | Missense Mutation | GCC,GGC | A,G 344 | NP_001305682.1 | |
NM_001318754.1 | 3199 | Missense Mutation | GCC,GGC | A,G 303 | NP_001305683.1 | |
NM_030820.3 | 3199 | Missense Mutation | GCC,GGC | A,G 946 | NP_110447.2 | |
XM_006715223.1 | 3199 | Missense Mutation | GCC,GGC | A,G 934 | XP_006715286.1 | |
XM_011514924.2 | 3199 | Missense Mutation | GCC,GGC | A,G 946 | XP_011513226.1 | |
XM_011514925.2 | 3199 | Missense Mutation | GCC,GGC | A,G 946 | XP_011513227.1 | |
XM_011514926.1 | 3199 | Missense Mutation | GCC,GGC | A,G 946 | XP_011513228.1 | |
XM_011514927.1 | 3199 | Missense Mutation | GCC,GGC | A,G 946 | XP_011513229.1 |