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TTCATTTGTAATATTTCTCAATACT[A/G]GCGTATCTGCGTTGGTCCCCACAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
18 submissions
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Phenotype: |
MIM: 181590 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
STIL 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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STIL - SCL/TAL1 interrupting locus | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001048166.1 | 3012 | Missense Mutation | CCA,CTA | P,L 1194 | NP_001041631.1 | |
NM_001282936.1 | 3012 | Missense Mutation | CCA,CTA | P,L 1193 | NP_001269865.1 | |
NM_001282937.1 | 3012 | Missense Mutation | CCA,CTA | P,L 1176 | NP_001269866.1 | |
NM_001282938.1 | 3012 | Missense Mutation | CCA,CTA | P,L 1147 | NP_001269867.1 | |
NM_001282939.1 | 3012 | Missense Mutation | CCA,CTA | P,L 1129 | NP_001269868.1 | |
NM_003035.2 | 3012 | Missense Mutation | CCA,CTA | P,L 1193 | NP_003026.2 | |
XM_006710834.3 | 3012 | Missense Mutation | CCA,CTA | P,L 1194 | XP_006710897.1 | |
XM_011541991.2 | 3012 | Missense Mutation | CCA,CTA | P,L 1194 | XP_011540293.1 | |
XM_011541992.2 | 3012 | Missense Mutation | CCA,CTA | P,L 1194 | XP_011540294.1 | |
XM_011541994.2 | 3012 | Missense Mutation | CCA,CTA | P,L 1176 | XP_011540296.1 | |
XM_011541996.2 | 3012 | Missense Mutation | CCA,CTA | P,L 1147 | XP_011540298.1 | |
XM_011541998.2 | 3012 | Missense Mutation | CCA,CTA | P,L 1129 | XP_011540300.1 | |
XM_011542001.2 | 3012 | UTR 3 | XP_011540303.1 | |||
XM_017002123.1 | 3012 | Missense Mutation | CCA,CTA | P,L 1146 | XP_016857612.1 | |
XM_017002124.1 | 3012 | Missense Mutation | CCA,CTA | P,L 957 | XP_016857613.1 | |
XM_017002125.1 | 3012 | UTR 3 | XP_016857614.1 | |||
XM_017002126.1 | 3012 | UTR 3 | XP_016857615.1 | |||
XM_017002127.1 | 3012 | Intron | XP_016857616.1 |