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GAAAGAGAGATTGGGTTTTTACCTC[C/T]AGCAAGAAGTCTGAGACATCATGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615335 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CERS5 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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CERS5 - ceramide synthase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281731.1 | 998 | Silent Mutation | CTA,CTG | L,L 196 | NP_001268660.1 | |
NM_147190.3 | 998 | Silent Mutation | CTA,CTG | L,L 254 | NP_671723.1 | |
XM_005269220.2 | 998 | Silent Mutation | CTA,CTG | L,L 254 | XP_005269277.1 | |
XM_006719687.3 | 998 | Silent Mutation | CTA,CTG | L,L 254 | XP_006719750.1 | |
XM_011538975.2 | 998 | Silent Mutation | CTA,CTG | L,L 254 | XP_011537277.1 | |
XM_017020202.1 | 998 | Silent Mutation | CTA,CTG | L,L 196 | XP_016875691.1 | |
XM_017020203.1 | 998 | Silent Mutation | CTA,CTG | L,L 196 | XP_016875692.1 | |
XM_017020204.1 | 998 | Silent Mutation | CTA,CTG | L,L 254 | XP_016875693.1 | |
XM_017020205.1 | 998 | Silent Mutation | CTA,CTG | L,L 110 | XP_016875694.1 |