Product Details

SNP ID

rs147962002

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:68490218 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGACAAGAGAGTATCCAGAAGAC[A/T]TGCCATTCTTGAGGTGGCAGGTGGT

Phenotype

MIM: 611035

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

APLF PubMed Links

Gene Details

Gene

APLF

Gene Name

aprataxin and PNKP like factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173545.2	298	Missense Mutation	CAT,CTT	H42L	NP_775816.1

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