Product Details

SNP ID
rs200055806
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:37294406 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAATTTCATTCATTGTCTGTATTA[C/T]GAAGCCCACATCCCAGTTCAAAGTA
Phenotype
MIM: 606694
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NUP155 PubMed Links

Gene Details

Gene
NUP155
Gene Name
nucleoporin 155
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278312.1 4002 Missense Mutation ATA,GTA I1221V NP_001265241.1
NM_004298.3 4002 Missense Mutation ATA,GTA I1226V NP_004289.1
NM_153485.2 4002 Missense Mutation ATA,GTA I1285V NP_705618.1
XM_011514165.2 4002 Intron XP_011512467.1

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