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ACCAGAAAGGAACCGACGGAGCTAG[A/G]GGCCAGCGAGATGGCGGACGAGGCC
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602127 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMTN 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)
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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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SMTN - smoothelin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001207017.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | NP_001193946.1 | |
NM_001207018.1 | 315 | Intron | NP_001193947.1 | |||
NM_006932.4 | 315 | UTR 5 | NP_008863.3 | |||
NM_134269.2 | 315 | UTR 5 | NP_599031.1 | |||
NM_134270.2 | 315 | UTR 5 | NP_599032.2 | |||
XM_006724298.1 | 315 | UTR 5 | XP_006724361.1 | |||
XM_006724302.1 | 315 | UTR 5 | XP_006724365.1 | |||
XM_011530333.2 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_011528635.1 | |
XM_011530336.2 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_011528638.1 | |
XM_011530337.2 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_011528639.1 | |
XM_011530338.2 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_011528640.1 | |
XM_011530339.2 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_011528641.1 | |
XM_011530340.2 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_011528642.1 | |
XM_011530341.1 | 315 | Intron | XP_011528643.1 | |||
XM_017028913.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884402.1 | |
XM_017028914.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884403.1 | |
XM_017028915.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884404.1 | |
XM_017028916.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884405.1 | |
XM_017028917.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884406.1 | |
XM_017028918.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884407.1 | |
XM_017028919.1 | 315 | Missense Mutation | GAG,GGG | E,G 51 | XP_016884408.1 |