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AGCTGTTATGTGTCATTCACCAGCC[A/G]GCTGTATTTAACTTGCCTACTGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611573 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SGMS1 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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SGMS1 - sphingomyelin synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_147156.3 | 2176 | Missense Mutation | CGG,TGG | R,W 408 | NP_671512.1 | |
XM_005269675.1 | 2176 | Missense Mutation | CGG,TGG | R,W 408 | XP_005269732.1 | |
XM_011539582.2 | 2176 | Missense Mutation | CGG,TGG | R,W 408 | XP_011537884.1 | |
XM_011539583.2 | 2176 | Missense Mutation | CGG,TGG | R,W 408 | XP_011537885.1 | |
XM_011539584.2 | 2176 | Intron | XP_011537886.1 |