Product Details

SNP ID

rs138026842

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:121303391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTAAGTGATGGATCTTGTACTC[C/T]GTGTTGCAGATTACTATTTTTTTAC

Phenotype

MIM: 602286

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SC5D PubMed Links

Gene Details

Gene

SC5D

Gene Name

sterol-C5-desaturase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024956.2	237	Missense Mutation	CGT,TGT	R6C	NP_001020127.1
NM_006918.4	237	Missense Mutation	CGT,TGT	R6C	NP_008849.2

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