Product Details

SNP ID

rs199604249

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154820359 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTCTGGGATGCTCTCAGAGAGC[C/G]GGGTGAAGCCCAGCAGGAGGACATG

Phenotype

MIM: 612059

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAXDC2 PubMed Links

Gene Details

Gene

FAXDC2

Gene Name

fatty acid hydroxylase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032385.4	807	Missense Mutation	CCG,CGG	P320R	NP_115761.2
XM_005268358.2	807	Missense Mutation	CCG,CGG	P180R	XP_005268415.1
XM_006714753.2	807	Missense Mutation	CCG,CGG	P320R	XP_006714816.1
XM_017008965.1	807	Missense Mutation	CCG,CGG	P320R	XP_016864454.1
XM_017008966.1	807	Missense Mutation	CCG,CGG	P180R	XP_016864455.1

Gene

LARP1

Gene Name

La ribonucleoprotein domain family member 1

There are no transcripts associated with this gene.

Gene

MIR378H

Gene Name

microRNA 378h

There are no transcripts associated with this gene.

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