Product Details

SNP ID
rs1806268
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5419458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTCCCACAGGAAAAGCTCTCCGC[C/T]GAGGCCAAAGACCACGTTTCTCGTC
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_001320653.1 205 Missense Mutation AGC,GGC S65G NP_001307582.1
NM_002532.5 205 Missense Mutation AGC,GGC S65G NP_002523.2
XM_011523893.2 205 UTR 5 XP_011522195.1
XM_017024694.1 205 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_001033002.3 205 Intron NP_001028174.2
NM_001160243.1 205 Intron NP_001153715.1
NM_001160244.1 205 Intron NP_001153716.1
NM_001160246.1 205 Intron NP_001153718.1
NM_001160266.1 205 Intron NP_001153738.1

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