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SNP ID

rs186970426

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75914851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACTCAGCTTTTGCTGCGCGGAGA[A/G]CTCCGCCCACTCGGCAGCCAGGCGC

Phenotype

MIM: 616807 MIM: 611844

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBF1 PubMed Links

Gene Details

Gene

FBF1

Gene Name

Fas binding factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319193.1	2793	Missense Mutation	CTC,TTC	L904F	NP_001306122.1

Gene

MRPL38

Gene Name

mitochondrial ribosomal protein L38

There are no transcripts associated with this gene.

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