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TTACTTGAACATCTCGCTCCTCTCT[A/G]TGGTGGCGAGCCAAAAGCTGTAAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120130 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL4A1 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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COL4A1 - collagen type IV alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303110.1 | 12969 | Intron | NP_001290039.1 | |||
NM_001845.5 | 12969 | Missense Mutation | ACA,ATA | T,I 1636 | NP_001836.3 | |
XM_011521048.2 | 12969 | Missense Mutation | ACA,ATA | T,I 1572 | XP_011519350.1 |