Product Details

SNP ID

hCV25621713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:63331672 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTGAAGAGCACTGGTCCAATCT[G/T]ACGTATTCGAAAACAATACATAAGT

Phenotype

MIM: 136440

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KDSR PubMed Links

Gene Details

Gene

KDSR

Gene Name

3-ketodihydrosphingosine reductase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002035.2	1264	UTR 3			NP_002026.1

View Full Product Details