Product Details
- SNP ID
-
rs4808867
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:18877857 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CTAACGCCGCATCTGCCAGAACCCA[C/T]GTGACCCTCTGCCCCAATCCCATCT
- Phenotype
-
MIM: 606919
MIM: 602880
MIM: 601430
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
CERS1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs200414993] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- CERS1
- Gene Name
- ceramide synthase 1
- Gene
- GDF1
- Gene Name
- growth differentiation factor 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001492.5 |
|
Intron |
|
|
NP_001483.3 |
- Gene
- UPF1
- Gene Name
- UPF1, RNA helicase and ATPase
There are no transcripts associated with this gene.
View Full Product Details