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GAGCCCCGAGGATGAGGCTGCTCGC[C/G]TGGCTGATTTTCCTGGCTAACTGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
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Literature Links: |
SMPDL3B 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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SMPDL3B - sphingomyelin phosphodiesterase acid like 3B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009568.2 | 244 | Silent Mutation | GCC,GCG | A,A 5 | NP_001009568.1 | |
NM_001304579.1 | 244 | UTR 5 | NP_001291508.1 | |||
NM_014474.3 | 244 | Silent Mutation | GCC,GCG | A,A 5 | NP_055289.2 | |
XM_011541259.2 | 244 | Silent Mutation | GCC,GCG | A,A 5 | XP_011539561.1 | |
XM_011541260.2 | 244 | Intron | XP_011539562.1 |