Product Details

SNP ID
rs200676007
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:56305613 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAATTACCTTTTAAGAAACATCA[C/T]GAAGTATAACAACTTTGGCATATAC
Phenotype
MIM: 608989
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SDR16C5 PubMed Links

Gene Details

Gene
SDR16C5
Gene Name
short chain dehydrogenase/reductase family 16C, member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318049.1 1552 Missense Mutation ATG,GTG M274V NP_001304978.1
NM_001318050.1 1552 Missense Mutation ATG,GTG M230V NP_001304979.1
NM_138969.3 1552 Missense Mutation ATG,GTG M274V NP_620419.2
XM_011517479.1 1552 Missense Mutation ATG,GTG M230V XP_011515781.1

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