Product Details

SNP ID

rs76232633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:61806692 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGAAGTATTTGTGCTGGTGGTT[G/T]TACGGCATATATTTTTTCTTCTGTT

Phenotype

MIM: 606148 MIM: 606149 MIM: 600393

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FADS1 PubMed Links

Gene Details

Gene

FADS1

Gene Name

fatty acid desaturase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013402.4	750	Nonsense Mutation	TAA,TAC	*316Y	NP_037534.3
XM_011545022.2	750	Nonsense Mutation	TAA,TAC	*245Y	XP_011543324.1

Gene

FADS2

Gene Name

fatty acid desaturase 2

There are no transcripts associated with this gene.

Gene

FEN1

Gene Name

flap structure-specific endonuclease 1

There are no transcripts associated with this gene.

Gene

MIR1908

Gene Name

microRNA 1908

There are no transcripts associated with this gene.

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