Product Details

SNP ID

rs104894297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:121303512 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAATGTTGGTGCTTACATCCTTT[A/C]TTTCTTCTGTGCAACACTGAGCTAT

Phenotype

MIM: 602286

Polymorphism

A/C, Transversion 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	358	Missense Mutation	TAT,TCT	Y46S	NP_001020127.1
NM_006918.4	358	Missense Mutation	TAT,TCT	Y46S	NP_008849.2

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