Product Details

SNP ID
rs11884408
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:68467123 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTGACTGTCACTGCGGCTCCAGGCC[A/G]CGGAGGGAAGGCTGAGCTTGCGTCC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173545.2 Intron NP_775816.1
Gene
FBXO48
Gene Name
F-box protein 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001024680.2 Intron NP_001019851.1
XM_005264407.2 Intron XP_005264464.1
XM_017004437.1 Intron XP_016859926.1

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