Product Details

SNP ID

rs199546863

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:121303565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGTCTTCGATCATGCATTAATG[A/G]AACATCCACAATTTTTAAAGGTAAG

Phenotype

MIM: 602286

Polymorphism

A/G, 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	411	Missense Mutation	AAA,GAA	K64E	NP_001020127.1
NM_006918.4	411	Missense Mutation	AAA,GAA	K64E	NP_008849.2

View Full Product Details