Product Details

SNP ID

rs201365033

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28547729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTAAATGTGCTCGCAGGTGTTCTT[C/G]CTGCTGGGGATGCAGAAGCCAAAGT

Phenotype

MIM: 600838 MIM: 610271 MIM: 604011

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FOXN1 PubMed Links

Gene Details

Gene

FOXN1

Gene Name

forkhead box N1

There are no transcripts associated with this gene.

Gene

PIGS

Gene Name

phosphatidylinositol glycan anchor biosynthesis class S

There are no transcripts associated with this gene.

Gene

UNC119

Gene Name

unc-119 lipid binding chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005148.3	629	Missense Mutation	AGC,AGG	S186R	NP_005139.1
NM_054035.2	629	Missense Mutation	AGC,AGG	S186R	NP_473376.1
XM_011525459.2	629	Intron			XP_011523761.1
XM_017025289.1	629	Missense Mutation	AGC,AGG	S91R	XP_016880778.1

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