Product Details

SNP ID

rs142133355

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:69035784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGGGCGGCAGACCCGGAGCAGCA[C/T]GTGGACTCTCGGGCGCCGCGCAGTA

Phenotype

MIM: 606829

Polymorphism

C/T, 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	222	Missense Mutation	ACG,ATG	T1M	NP_000135.2
NM_001161706.1	222	Missense Mutation	ACG,ATG	T0M	NP_001155178.1
NM_181425.2	222	Missense Mutation	ACG,ATG	T1M	NP_852090.1

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