Product Details

SNP ID

rs147197890

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:82080172 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCCATGTCCGTGAACTGCTGCA[C/T]GAAGAAGCATATGGCCTCCGTCTCA

Phenotype

MIM: 600212

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FASN PubMed Links

Gene Details

Gene

FASN

Gene Name

fatty acid synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004104.4	7231	Missense Mutation	ATG,GTG	M2372V	NP_004095.4
XM_011523538.2	7231	Missense Mutation	ATG,GTG	M2372V	XP_011521840.1

Gene

SNORD134

Gene Name

small nucleolar RNA, C/D box 134

There are no transcripts associated with this gene.

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