Product Details

SNP ID
rs112823244
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5419472 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTCTCCGCCGAGGCCAAAGACC[A/G]CGTTTCTCGTCAGCAACTGCGGCGG
Phenotype
MIM: 602552
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NUP88 PubMed Links

Gene Details

Gene
NUP88
Gene Name
nucleoporin 88
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320653.1 191 Missense Mutation GCG,GTG A60V NP_001307582.1
NM_002532.5 191 Missense Mutation GCG,GTG A60V NP_002523.2
XM_011523893.2 191 UTR 5 XP_011522195.1
XM_017024694.1 191 UTR 5 XP_016880183.1
Gene
RPAIN
Gene Name
RPA interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033002.3 191 Intron NP_001028174.2
NM_001160243.1 191 Intron NP_001153715.1
NM_001160244.1 191 Intron NP_001153716.1
NM_001160246.1 191 Intron NP_001153718.1
NM_001160266.1 191 Intron NP_001153738.1

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