Product Details

SNP ID
rs200059221
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:17616572 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACTGGTTAAATGGAAAGCCCCCC[A/G]AGCCTGAAGGCTGGGCTGAGGCTGC
Phenotype
MIM: 603948
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAM8A1 PubMed Links

Gene Details

Gene
FAM8A1
Gene Name
family with sequence similarity 8 member A1
There are no transcripts associated with this gene.

Gene
NUP153
Gene Name
nucleoporin 153
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278209.1 4838 Missense Mutation TCG,TTG S1464L NP_001265138.1
NM_001278210.1 4838 Missense Mutation TCG,TTG S1391L NP_001265139.1
NM_005124.3 4838 Missense Mutation TCG,TTG S1433L NP_005115.2
XM_005249507.2 4838 Missense Mutation TCG,TTG S1415L XP_005249564.1
XM_006715290.2 4838 Missense Mutation TCG,TTG S1427L XP_006715353.1
XM_006715291.3 4838 Intron XP_006715354.1
XM_011515028.2 4838 Missense Mutation TCG,TTG S1368L XP_011513330.1
XM_017011594.1 4838 Missense Mutation TCG,TTG S1409L XP_016867083.1

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