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AGACTTGGGTTCTTGTGGAGATTGT[G/T]GTTTGAGGAAGCTGTTATCATCTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615335 MIM: 608364 | ||||||||||||||||||||
Literature Links: |
CERS5 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 |
CERS5 - ceramide synthase 5 | ||||||
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There are no transcripts associated with this gene. |
LIMA1 - LIM domain and actin binding 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113546.1 | 2145 | Missense Mutation | CAA,CCA | Q,P 697 | NP_001107018.1 | |
NM_001113547.1 | 2145 | Missense Mutation | CAA,CCA | Q,P 537 | NP_001107019.1 | |
NM_001243775.1 | 2145 | Missense Mutation | CAA,CCA | Q,P 394 | NP_001230704.1 | |
NM_016357.4 | 2145 | Missense Mutation | CAA,CCA | Q,P 696 | NP_057441.1 | |
XM_011538455.2 | 2145 | Missense Mutation | CAA,CCA | Q,P 697 | XP_011536757.1 | |
XM_017019429.1 | 2145 | Missense Mutation | CAA,CCA | Q,P 395 | XP_016874918.1 | |
XM_017019430.1 | 2145 | Missense Mutation | CAA,CCA | Q,P 394 | XP_016874919.1 |