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AATAAAGTAGCTTCACTTATGGTAT[C/T]TGTGCAAGGCTATTCAAAGTATACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604677 MIM: 142910 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL4A3BP 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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COL4A3BP - collagen type IV alpha 3 binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130105.1 | Intron | NP_001123577.1 | ||||
NM_005713.2 | Intron | NP_005704.1 | ||||
NM_031361.2 | Intron | NP_112729.1 | ||||
XM_006714513.2 | Intron | XP_006714576.1 | ||||
XM_011543090.2 | Intron | XP_011541392.1 | ||||
XM_011543091.2 | Intron | XP_011541393.1 | ||||
XM_017008919.1 | Intron | XP_016864408.1 |
HMGCR - 3-hydroxy-3-methylglutaryl-CoA reductase | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |