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AGCCTCTTCCAAAGCCCACAGAGCC[A/G]TGGGCTCCACAGGCGCCCCGAGTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120215 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL5A1 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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COL5A1 - collagen type V alpha 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000093.4 | Intron | NP_000084.3 | ||||
NM_001278074.1 | Intron | NP_001265003.1 | ||||
XM_017014266.1 | Intron | XP_016869755.1 |
COL5A1-AS1 - COL5A1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |