Product Details

SNP ID
rs338599
Assay Type
DME
NCBI dbSNP Submissions
NA
Location
Chr.19:41194588 on Build GRCh38
Set Membership
HapMap DME Validated Inventoried
Context Sequence [VIC/FAM]
CGGTGTTCACCATCTACCTGGGACC[C/G]TGGCGGCCTGTGGTGGTCCTGGTTG
Phenotype
MIM: 611529
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
CYP2S1*1C,g.1324C>G CYP2S1*1D,g.1324C>G
Literature Links
CYP2S1 PubMed Links

Gene Details

Gene
CYP2S1
Gene Name
cytochrome P450 family 2 subfamily S member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030622.7 280 Silent Mutation CCC,CCG P74P NP_085125.1

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