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TCCAAAAAGGAAGAATTTTCAACCC[C/T]GGAGCATATACTCAGAATCCTCCAG
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 611916 | |||||||||||||||||||||||||||||
Literature Links: |
COL6A5 PubMed Links | |||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
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Caucasian
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CEPH (CEU) - Not Available | ||||||
EAS - Not Available | African American
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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 |
COL6A5 - collagen type VI alpha 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278298.1 | Intron | NP_001265227.1 | ||||
NM_153264.6 | Intron | NP_694996.5 | ||||
XM_011512621.2 | Intron | XP_011510923.1 | ||||
XM_011512622.2 | Intron | XP_011510924.1 | ||||
XM_011512623.2 | Intron | XP_011510925.1 |
Set Membership: |
Validated |