Product Details

SNP ID

rs141858334

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:69046398 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGGCTTTCAGAGTTCGAACCAAC[A/G]TGGCCTCAACCAGATTTGGAATGTC

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	399	Missense Mutation	CAT,CGT	H60R	NP_000135.2
NM_001161706.1	399	Missense Mutation	CAT,CGT	H60R	NP_001155178.1
NM_181425.2	399	Missense Mutation	CAT,CGT	H60R	NP_852090.1

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