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TATTCCTGAGATCAGGGATGGAGTC[C/T]TCTGAGGCATGAAGGTTTCAGAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
20 submissions
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Phenotype: |
MIM: 604127 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TBX15 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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TBX15 - T-box 15 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152380.2 | 1778 | Missense Mutation | AAG,AGG | K,R 336 | NP_689593.2 | |
XM_005271161.3 | 1778 | Missense Mutation | AAG,AGG | K,R 475 | XP_005271218.1 | |
XM_005271162.1 | 1778 | Missense Mutation | AAG,AGG | K,R 442 | XP_005271219.1 | |
XM_011542052.2 | 1778 | Missense Mutation | AAG,AGG | K,R 160 | XP_011540354.1 |