Product Details

SNP ID
rs61756118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5386770 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCACTGAGAATAATGGTGGGTTT[C/T]GGAAGACTCAACACCTTCTCCATCT
Phenotype
MIM: 602552 MIM: 603616
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 2287 Silent Mutation CCA,CCG P716P NP_001307582.1
NM_002532.5 2287 Silent Mutation CCA,CCG P700P NP_002523.2
XM_011523893.2 2287 Silent Mutation CCA,CCG P585P XP_011522195.1
XM_017024694.1 2287 Silent Mutation CCA,CCG P569P XP_016880183.1
Gene
RABEP1
Gene Name
rabaptin, RAB GTPase binding effector protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083585.2 2287 Intron NP_001077054.1
NM_001291581.1 2287 Intron NP_001278510.1
NM_001291582.1 2287 Intron NP_001278511.1
NM_004703.5 2287 Intron NP_004694.2
XM_011524060.1 2287 Intron XP_011522362.1
XM_017025294.1 2287 Intron XP_016880783.1
XM_017025295.1 2287 Intron XP_016880784.1

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