Product Details

SNP ID

rs11145228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:69102586 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGTGCATTTCATTTTTGCATCGTG[A/G]TAATCATACTGGGTGAATTTTGTAT

Phenotype

MIM: 606829 MIM: 607709

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FXN PubMed Links

Gene Details

Gene

FXN

Gene Name

frataxin

There are no transcripts associated with this gene.

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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