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AAGGCCTGGCTAATAATGTACTCTC[A/G]GGACAGACTCAGTATGTGACCAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 189906 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SP1 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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SP1 - Sp1 transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001251825.1 | 694 | Silent Mutation | TCA,TCG | S,S 199 | NP_001238754.1 | |
NM_003109.1 | 694 | Silent Mutation | TCA,TCG | S,S 240 | NP_003100.1 | |
NM_138473.2 | 694 | Silent Mutation | TCA,TCG | S,S 247 | NP_612482.2 | |
XM_011538696.2 | 694 | Silent Mutation | TCA,TCG | S,S 240 | XP_011536998.1 |