Product Details

SNP ID
rs201857009
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:37292966 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCAAAAGGTGCAGTGGCTTCTTC[A/T]TTCTGTTCCAGAATGGATCCTATGA
Phenotype
MIM: 606694
Polymorphism
A/T, Transversion 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 4099 Missense Mutation AAG,ATG K1253M NP_001265241.1
NM_004298.3 4099 Missense Mutation AAG,ATG K1258M NP_004289.1
NM_153485.2 4099 Missense Mutation AAG,ATG K1317M NP_705618.1
XM_011514165.2 4099 Intron XP_011512467.1

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