Product Details

SNP ID
rs113030643
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50177184 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCCTGGGATTTCTGATTCTGAGT[A/G]GTGAATTCTTCAGCAAAGGTGTTGT
Phenotype
MIM: 615335 MIM: 608364
Polymorphism
A/G, Transition 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 2218 Silent Mutation NP_001107018.1
NM_001113547.1 2218 Silent Mutation NP_001107019.1
NM_001243775.1 2218 Silent Mutation NP_001230704.1
NM_016357.4 2218 Silent Mutation NP_057441.1
XM_011538455.2 2218 Silent Mutation XP_011536757.1
XM_017019429.1 2218 Silent Mutation XP_016874918.1
XM_017019430.1 2218 Silent Mutation XP_016874919.1

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