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CTCTCCCGGGTGACGACGGGTAGAA[A/C]AGCAGGAGGAGCGGAGAAAGGAGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604677 MIM: 605650 | ||||||||||||||||||||||||||||||||||||||
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) - 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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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 | 192 | Missense Mutation | GTT,TTT | V,F 19 | NP_001123577.1 | |
NM_005713.2 | 192 | Intron | NP_005704.1 | |||
NM_031361.2 | 192 | Intron | NP_112729.1 | |||
XM_006714513.2 | 192 | Intron | XP_006714576.1 | |||
XM_011543090.2 | 192 | Intron | XP_011541392.1 | |||
XM_011543091.2 | 192 | Intron | XP_011541393.1 | |||
XM_017008919.1 | 192 | Intron | XP_016864408.1 |
POLK - polymerase (DNA) kappa | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016218.2 | 192 | Intron | NP_057302.1 | |||
XM_005248534.4 | 192 | Intron | XP_005248591.1 | |||
XM_006714652.3 | 192 | Intron | XP_006714715.1 | |||
XM_011543463.2 | 192 | Intron | XP_011541765.1 | |||
XM_011543464.2 | 192 | Intron | XP_011541766.1 | |||
XM_011543467.2 | 192 | Intron | XP_011541769.1 | |||
XM_017009558.1 | 192 | Intron | XP_016865047.1 | |||
XM_017009559.1 | 192 | Intron | XP_016865048.1 | |||
XM_017009560.1 | 192 | Intron | XP_016865049.1 | |||
XM_017009561.1 | 192 | Intron | XP_016865050.1 | |||
XM_017009562.1 | 192 | Intron | XP_016865051.1 | |||
XM_017009563.1 | 192 | Intron | XP_016865052.1 | |||
XM_017009564.1 | 192 | Intron | XP_016865053.1 |