Product Details

SNP ID
rs139830234
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50177421 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCACATTCCCATTCTTCTTAGA[A/C]GCCTTGGCATTTTCCACTTGTTTCC
Phenotype
MIM: 615335 MIM: 608364
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CERS5 PubMed Links

Gene Details

Gene
CERS5
Gene Name
ceramide synthase 5
There are no transcripts associated with this gene.

Gene
LIMA1
Gene Name
LIM domain and actin binding 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001113546.1 1981 Silent Mutation GCG,GCT A642A NP_001107018.1
NM_001113547.1 1981 Silent Mutation GCG,GCT A482A NP_001107019.1
NM_001243775.1 1981 Silent Mutation GCG,GCT A339A NP_001230704.1
NM_016357.4 1981 Silent Mutation GCG,GCT A641A NP_057441.1
XM_011538455.2 1981 Silent Mutation GCG,GCT A642A XP_011536757.1
XM_017019429.1 1981 Silent Mutation GCG,GCT A340A XP_016874918.1
XM_017019430.1 1981 Silent Mutation GCG,GCT A339A XP_016874919.1

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