Product Details

SNP ID

rs186736465

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:118152405 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGCTTCTTGAGCCTCATCTAGC[C/T]GTAACTGCGGACACAGAAGACACAC

Phenotype

MIM: 604591 MIM: 616711

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PEBP1 PubMed Links

Gene Details

Gene

PEBP1

Gene Name

phosphatidylethanolamine binding protein 1

There are no transcripts associated with this gene.

Gene

TAOK3

Gene Name

TAO kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016281.3	3181	Missense Mutation	CAG,CGG	Q786R	NP_057365.3
XM_005253897.1	3181	Missense Mutation	CAG,CGG	Q795R	XP_005253954.1
XM_005253898.1	3181	Missense Mutation	CAG,CGG	Q795R	XP_005253955.1
XM_006719445.2	3181	Missense Mutation	CAG,CGG	Q795R	XP_006719508.1
XM_011538437.1	3181	Missense Mutation	CAG,CGG	Q795R	XP_011536739.1
XM_011538439.1	3181	Missense Mutation	CAG,CGG	Q786R	XP_011536741.1
XM_017019408.1	3181	Missense Mutation	CAG,CGG	Q795R	XP_016874897.1
XM_017019409.1	3181	Missense Mutation	CAG,CGG	Q795R	XP_016874898.1
XM_017019410.1	3181	Missense Mutation	CAG,CGG	Q795R	XP_016874899.1
XM_017019411.1	3181	Missense Mutation	CAG,CGG	Q786R	XP_016874900.1
XM_017019412.1	3181	Missense Mutation	CAG,CGG	Q625R	XP_016874901.1
XM_017019413.1	3181	Missense Mutation	CAG,CGG	Q616R	XP_016874902.1

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