Product Details

SNP ID
rs142688864
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5419582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGTCCCTCCCGGAGCCGCAAGAA[C/T]ACGACGTGGTTAGGAAGCCAGGTCT
Phenotype
MIM: 602552
Polymorphism
C/T, 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 81 Silent Mutation GTA,GTG V23V NP_001307582.1
NM_002532.5 81 Silent Mutation GTA,GTG V23V NP_002523.2
XM_011523893.2 81 UTR 5 XP_011522195.1
XM_017024694.1 81 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 81 Intron NP_001028174.2
NM_001160243.1 81 Intron NP_001153715.1
NM_001160244.1 81 Intron NP_001153716.1
NM_001160246.1 81 Intron NP_001153718.1
NM_001160266.1 81 Intron NP_001153738.1

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