Product Details

SNP ID

rs12614904

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:68465099 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCAGCATCCACAGAGTTCGCTTCT[A/G]TGTGAGAAACTCTTAAATTATTGTT

Phenotype

MIM: 611035

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APLF PubMed Links

Gene Details

Gene

APLF

Gene Name

aprataxin and PNKP like factor

There are no transcripts associated with this gene.

Gene

FBXO48

Gene Name

F-box protein 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024680.2	516	Missense Mutation	ACA,ATA	T16I	NP_001019851.1
XM_005264407.2	516	Missense Mutation	ACA,ATA	T16I	XP_005264464.1
XM_017004437.1	516	Missense Mutation	ACA,ATA	T16I	XP_016859926.1

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