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AGCGCTTCTTCCTGACTTGCGTGTC[C/T]GGGGAGGCCGGGGCGGGGAGGGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 600222 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TIE1 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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TIE1 - tyrosine kinase with immunoglobulin like and EGF like domains 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001253357.1 | 255 | Intron | NP_001240286.1 | |||
NM_005424.4 | 255 | Silent Mutation | TCC,TCT | S,S 45 | NP_005415.1 | |
XM_005271163.1 | 255 | Silent Mutation | TCC,TCT | S,S 45 | XP_005271220.1 | |
XM_006710869.1 | 255 | UTR 5 | XP_006710932.1 | |||
XM_017002207.1 | 255 | Silent Mutation | TCC,TCT | S,S 45 | XP_016857696.1 |