Product Details

SNP ID
rs7250622
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18874034 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGAAAACAGGCTGATGAGGCCAGTG[A/G]TGGAGAAGAGCAGAGAGCACGTTCT
Phenotype
MIM: 606919 MIM: 602880 MIM: 601430
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CERS1 PubMed Links

Gene Details

Gene
CERS1
Gene Name
ceramide synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001290265.1 Intron NP_001277194.1
NM_021267.4 Intron NP_067090.1
NM_198207.2 Intron NP_937850.1
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.

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