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TGTCCATGGGCTGCACGGTGGTGAC[C/G]GTGCAGCTGCTGTAGGAAGGCATGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601620 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TBX5 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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TBX5 - T-box 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000192.3 | 3651 | Silent Mutation | ACC,ACG | T,T 411 | NP_000183.2 | |
NM_080717.2 | 3651 | Silent Mutation | ACC,ACG | T,T 361 | NP_542448.1 | |
NM_181486.2 | 3651 | Silent Mutation | ACC,ACG | T,T 411 | NP_852259.1 | |
XM_017019912.1 | 3651 | Silent Mutation | ACC,ACG | T,T 427 | XP_016875401.1 |