Product Details

SNP ID
rs1058117
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5419886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGGGGCGGGACGAGAAGTCAACA[G/T]AATGGTGGTGCTGCTGGAAATCTAG
Phenotype
MIM: 602552
Polymorphism
G/T, Transversion 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_001320653.1 246 Intron NP_001307582.1
NM_002532.5 246 Intron NP_002523.2
XM_011523893.2 246 Intron XP_011522195.1
XM_017024694.1 246 Intron XP_016880183.1
Gene
RPAIN
Gene Name
RPA interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033002.3 246 UTR 5 NP_001028174.2
NM_001160243.1 246 UTR 5 NP_001153715.1
NM_001160244.1 246 UTR 5 NP_001153716.1
NM_001160246.1 246 UTR 5 NP_001153718.1
NM_001160266.1 246 UTR 5 NP_001153738.1

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