Product Details

SNP ID
rs200105089
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75208538 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTATTTTACTAGTTGATTCCAGG[C/T]GTGAATTCCAAGAAGAACCAAATGT
Phenotype
MIM: 170285
Polymorphism
C/T, 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_001303276.1 352 Intron NP_001290205.1
NM_024844.4 352 Silent Mutation GGC,GGT G15G NP_079120.1
XM_005257690.2 352 Silent Mutation GGC,GGT G15G XP_005257747.1
XM_005257692.3 352 Intron XP_005257749.1
XM_006722094.1 352 Silent Mutation GGC,GGT G15G XP_006722157.1
XM_011525267.1 352 UTR 5 XP_011523569.1
XM_011525268.1 352 Silent Mutation GGC,GGT G15G XP_011523570.1
XM_017025108.1 352 Silent Mutation GGC,GGT G15G XP_016880597.1
XM_017025109.1 352 Intron XP_016880598.1
XM_017025110.1 352 Intron XP_016880599.1

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