Product Details

SNP ID
rs11552118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75209942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCCATGGAATCTTTCTGGGCCTC[A/C]AGAGAATTGACGAAGAGTTGACTGG
Phenotype
MIM: 170285
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NUP85 PubMed Links

Gene Details

Gene
NUP85
Gene Name
nucleoporin 85
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303276.1 554 Missense Mutation AAG,CAG K37Q NP_001290205.1
NM_024844.4 554 Missense Mutation AAG,CAG K83Q NP_079120.1
XM_005257690.2 554 Missense Mutation AAG,CAG K83Q XP_005257747.1
XM_005257692.3 554 UTR 5 XP_005257749.1
XM_006722094.1 554 Missense Mutation AAG,CAG K83Q XP_006722157.1
XM_011525267.1 554 UTR 5 XP_011523569.1
XM_011525268.1 554 Missense Mutation AAG,CAG K83Q XP_011523570.1
XM_017025108.1 554 Missense Mutation AAG,CAG K83Q XP_016880597.1
XM_017025109.1 554 Missense Mutation AAG,CAG K37Q XP_016880598.1
XM_017025110.1 554 UTR 5 XP_016880599.1

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