Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGCTCGCCTGGCTGATTTTCCTGG[C/T]TAACTGGGGAGGTGCCAGGGCTGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 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 |
---|---|---|
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 |
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 | 261 | Missense Mutation | GCT,GTT | A,V 11 | NP_001009568.1 | |
NM_001304579.1 | 261 | UTR 5 | NP_001291508.1 | |||
NM_014474.3 | 261 | Missense Mutation | GCT,GTT | A,V 11 | NP_055289.2 | |
XM_011541259.2 | 261 | Missense Mutation | GCT,GTT | A,V 11 | XP_011539561.1 | |
XM_011541260.2 | 261 | Intron | XP_011539562.1 |