Product Details

SNP ID

rs3124119

Assay Type

Functionally tested

NCBI dbSNP Submissions

47

Location

Chr.1:246544514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTTATACTTGCTTTTATTCTTTT[C/T]ACTCACCGTAAGTGGTCTATTACAG

Phenotype

MIM: 607055

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TFB2M PubMed Links

Gene Details

Gene

TFB2M

Gene Name

transcription factor B2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022366.2		Intron			NP_071761.1
XM_011544248.2		Intron			XP_011542550.1
XM_017002055.1		Intron			XP_016857544.1

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