Product Details

SNP ID

rs147478946

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:74236167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATAGAAAGATTAGAAGATGACCTG[C/T]AGATCAAGGAAAAAGAACTGACAGA

Phenotype

MIM: 613932

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FPGT-TNNI3K PubMed Links

Gene Details

Gene

FPGT-TNNI3K

Gene Name

FPGT-TNNI3K readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112808.2	171	Missense Mutation	CAG,TAG	Q150*	NP_001106279.2
NM_001199327.1	171	Missense Mutation	CAG,TAG	Q150*	NP_001186256.2

Gene

TNNI3K

Gene Name

TNNI3 interacting kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015978.2	171	Missense Mutation	CAG,TAG	Q36*	NP_057062.1

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