Product Details

SNP ID

rs148311054

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:168184840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATGATTGGACCTATACAACAGAT[G/T]ATAAGGGAACCTTACTTGGAGAATC

Phenotype

MIM: 611807

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TIPRL PubMed Links

Gene Details

Gene

TIPRL

Gene Name

TOR signaling pathway regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031800.2	579	Missense Mutation	GAT,TAT	D116Y	NP_001026970.1
NM_152902.4	579	Missense Mutation	GAT,TAT	D116Y	NP_690866.1

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