Product Details

SNP ID

rs3793454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:69046568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGAACCTGGTTTTCTTCCTGAGC[A/G]GCAACAATCTTAGGCATCTTTCCAT

Phenotype

MIM: 606829

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FXN PubMed Links

Gene Details

Gene

FXN

Gene Name

frataxin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000144.4		Intron			NP_000135.2
NM_001161706.1		Intron			NP_001155178.1
NM_181425.2		Intron			NP_852090.1

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