Product Details

SNP ID

rs138791943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:63331833 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTTCTCTCTGCATCATGCAGCG[A/T]CGAACTATGCTGTCAAAACTTCCAA

Phenotype

MIM: 136440

Polymorphism

A/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	968	Silent Mutation	CGA,CGT	R316R	NP_002026.1
XM_005266677.2	968	Silent Mutation	CGA,CGT	R282R	XP_005266734.1
XM_017025690.1	968	Silent Mutation	CGA,CGT	R239R	XP_016881179.1

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