Product Details

SNP ID

rs10869867

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:69101139 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATCAGAGGATACATTGGGGACCAT[G/T]TCTAGTGAGTGAGGTCAGGAGAGAC

Phenotype

MIM: 606829 MIM: 607709

Polymorphism

G/T, Transversion 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

Gene

TJP2

Gene Name

tight junction protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170414.2		Intron			NP_001163885.1
NM_001170415.1		Intron			NP_001163886.1
NM_001170416.1		Intron			NP_001163887.1
NM_004817.3		Intron			NP_004808.2
NM_201629.3		Intron			NP_963923.1
XM_005252314.2		Intron			XP_005252371.1
XM_011519204.1		Intron			XP_011517506.1
XM_011519206.2		Intron			XP_011517508.1
XM_011519207.2		Intron			XP_011517509.1
XM_011519208.2		Intron			XP_011517510.1
XM_011519209.2		Intron			XP_011517511.1
XM_017015326.1		Intron			XP_016870815.1
XM_017015327.1		Intron			XP_016870816.1
XM_017015328.1		Intron			XP_016870817.1

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