Product Details

SNP ID

rs17539290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:61020375 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTTCCAGTTGGTTATTAACTGGTA[C/T]GGCAGAATGCTATTGATTTTTTTTA

Phenotype

MIM: 601789 MIM: 612787

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PEX13 PubMed Links

Gene Details

Gene

PEX13

Gene Name

peroxisomal biogenesis factor 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002618.3		Intron			NP_002609.1

Gene

PUS10

Gene Name

pseudouridylate synthase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001322123.1		Intron			NP_001309052.1
NM_001322124.1		Intron			NP_001309053.1
NM_001322127.1		Intron			NP_001309056.1
NM_144709.3		Intron			NP_653310.2

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