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CAATTCCTTGGACATTCTTTTCAAA[A/G]TACTGAAATGGCCTGTACCACCACA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SGMS1 - sphingomyelin synthase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_147156.3 | 2082 | Silent Mutation | TAC,TAT | Y,Y 376 | NP_671512.1 | |
XM_005269675.1 | 2082 | Silent Mutation | TAC,TAT | Y,Y 376 | XP_005269732.1 | |
XM_011539582.2 | 2082 | Silent Mutation | TAC,TAT | Y,Y 376 | XP_011537884.1 | |
XM_011539583.2 | 2082 | Silent Mutation | TAC,TAT | Y,Y 376 | XP_011537885.1 | |
XM_011539584.2 | 2082 | Intron | XP_011537886.1 |