Product Details

SNP ID
rs201751185
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75213097 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGTTGCTGCTAAAGATCCAGCCA[A/G]TGGCCGCCAGTTCAGCAGCCAGGTA
Phenotype
MIM: 170285
Polymorphism
A/G, Transition 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_001303276.1 690 Missense Mutation AAT,AGT N82S NP_001290205.1
NM_024844.4 690 Missense Mutation AAT,AGT N128S NP_079120.1
XM_005257690.2 690 Missense Mutation AAT,AGT N128S XP_005257747.1
XM_005257692.3 690 UTR 5 XP_005257749.1
XM_006722094.1 690 Missense Mutation AAT,AGT N128S XP_006722157.1
XM_011525267.1 690 Missense Mutation ATG,GTG M1V XP_011523569.1
XM_011525268.1 690 Missense Mutation AAT,AGT N128S XP_011523570.1
XM_017025108.1 690 Missense Mutation AAT,AGT N128S XP_016880597.1
XM_017025109.1 690 Missense Mutation AAT,AGT N82S XP_016880598.1
XM_017025110.1 690 Missense Mutation ATG,GTG M1V XP_016880599.1

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