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TGGGGGACGCTGACAGTGGCTGCTG[C/T]CGTCTGGTTGAAAGACAGCTCCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120216 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL5A3 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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COL5A3 - collagen type V alpha 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015719.3 | 2840 | Missense Mutation | ACA,GCA | T,A 1685 | NP_056534.2 | |
XM_011528042.2 | 2840 | Missense Mutation | ACA,GCA | T,A 1684 | XP_011526344.1 | |
XM_017026849.1 | 2840 | Missense Mutation | ACA,GCA | T,A 906 | XP_016882338.1 |