Product Details

SNP ID
rs188238679
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:224189977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGTACCGCTTTCAGAAAGTTTAT[A/G]TGGGTTATTCTTCAGCCTCTCTTTT
Phenotype
MIM: 615843
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
DEGS1 PubMed Links

Gene Details

Gene
DEGS1
Gene Name
delta 4-desaturase, sphingolipid 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321541.1 612 Missense Mutation ATA,ATG I161M NP_001308470.1
NM_001321542.1 612 Missense Mutation ATA,ATG I125M NP_001308471.1
NM_003676.3 612 Missense Mutation ATA,ATG I161M NP_003667.1
XM_017002648.1 612 Missense Mutation ATA,ATG I125M XP_016858137.1

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