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TCACCAGACTGACTGCCAGATAAAA[C/T]GGAATTTCCATCCCAGACAAAGCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603043 MIM: 602217 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NSMAF 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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NSMAF - neutral sphingomyelinase activation associated factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144772.1 | 2789 | Missense Mutation | ATT,GTT | I,V 890 | NP_001138244.1 | |
NM_003580.3 | 2789 | Missense Mutation | ATT,GTT | I,V 859 | NP_003571.2 |
SDCBP - syndecan binding protein | ||||||
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There are no transcripts associated with this gene. |