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GAGTGGTCTGGCGTCCCCGATGGAG[C/T]CTTCTCATCCTCCGAGCTGCCTAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604994 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SIX2 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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SIX2 - SIX homeobox 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016932.4 | 942 | Missense Mutation | ACT,GCT | T,A 217 | NP_058628.3 | |
XM_005264100.3 | 942 | Missense Mutation | ACT,GCT | T,A 219 | XP_005264157.1 |