Product Details

SNP ID
rs181789514
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:154000872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGCTTACCTGCACCCAACTTATC[A/T]TTCATAGCCCTCACTACCACTGCCT
Phenotype
MIM: 603702
Polymorphism
A/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 5442 Intron NP_001152956.1
NM_207308.2 5442 Missense Mutation AAA,AAT K1790N NP_997191.2
XM_011510122.1 5442 Missense Mutation AAA,AAT K1746N XP_011508424.1
XM_011510123.1 5442 Missense Mutation AAA,AAT K1737N XP_011508425.1
XM_011510124.1 5442 Intron XP_011508426.1
XM_017002788.1 5442 Missense Mutation AAA,AAT K1790N XP_016858277.1
XM_017002789.1 5442 Intron XP_016858278.1
Gene
RPS27
Gene Name
ribosomal protein S27
There are no transcripts associated with this gene.

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