Product Details

SNP ID

rs80282091

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:118151058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAATTCCCAAATCCCATTCTGAGG[T/C]TCTCCATGTCAAAAGTTTCAATCTC

Phenotype

MIM: 604591 MIM: 616711

Polymorphism

T/C, 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	3460	Missense Mutation	AAC,AGC	N879S	NP_057365.3
XM_005253897.1	3460	Missense Mutation	AAC,AGC	N888S	XP_005253954.1
XM_005253898.1	3460	Missense Mutation	AAC,AGC	N888S	XP_005253955.1
XM_006719445.2	3460	Missense Mutation	AAC,AGC	N888S	XP_006719508.1
XM_011538437.1	3460	Missense Mutation	AAC,AGC	N888S	XP_011536739.1
XM_011538439.1	3460	Missense Mutation	AAC,AGC	N879S	XP_011536741.1
XM_017019408.1	3460	Missense Mutation	AAC,AGC	N888S	XP_016874897.1
XM_017019409.1	3460	Missense Mutation	AAC,AGC	N888S	XP_016874898.1
XM_017019410.1	3460	Missense Mutation	AAC,AGC	N888S	XP_016874899.1
XM_017019411.1	3460	Missense Mutation	AAC,AGC	N879S	XP_016874900.1
XM_017019412.1	3460	Missense Mutation	AAC,AGC	N718S	XP_016874901.1
XM_017019413.1	3460	Missense Mutation	AAC,AGC	N709S	XP_016874902.1

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