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CCCTATAAACATACGGAGGAGTCGG[C/T]GGCGCGTAAGGACAGGCAGGCGTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601542 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PITX2 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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PITX2 - paired like homeodomain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000325.5 | 2249 | Silent Mutation | CCA,CCG | P,P 273 | NP_000316.2 | |
NM_001204397.1 | 2249 | Silent Mutation | CCA,CCG | P,P 266 | NP_001191326.1 | |
NM_001204398.1 | 2249 | Silent Mutation | CCA,CCG | P,P 266 | NP_001191327.1 | |
NM_001204399.1 | 2249 | Silent Mutation | CCA,CCG | P,P 220 | NP_001191328.1 | |
NM_153426.2 | 2249 | Silent Mutation | CCA,CCG | P,P 266 | NP_700475.1 | |
NM_153427.2 | 2249 | Silent Mutation | CCA,CCG | P,P 220 | NP_700476.1 | |
XM_011532027.2 | 2249 | Silent Mutation | CCA,CCG | P,P 220 | XP_011530329.1 |