Product Details

SNP ID
rs199946419
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:154001935 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGTGTCAGCCACACTGAGGGCCT[G/T]TAGCAGCTCCTCTGACTGCGGTCGA
Phenotype
MIM: 603702
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NUP210L PubMed Links

Gene Details

Gene
NUP210L
Gene Name
nucleoporin 210 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159484.1 5053 Intron NP_001152956.1
NM_207308.2 5053 Missense Mutation AAG,CAG K1661Q NP_997191.2
XM_011510122.1 5053 Missense Mutation AAG,CAG K1617Q XP_011508424.1
XM_011510123.1 5053 Missense Mutation AAG,CAG K1608Q XP_011508425.1
XM_011510124.1 5053 Missense Mutation AAG,CAG K1661Q XP_011508426.1
XM_017002788.1 5053 Missense Mutation AAG,CAG K1661Q XP_016858277.1
XM_017002789.1 5053 Intron XP_016858278.1
Gene
RPS27
Gene Name
ribosomal protein S27
There are no transcripts associated with this gene.

View Full Product Details