Product Details

SNP ID
rs183074354
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129009818 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCATGTGGCGGTAGCACTGTGC[A/G]TAGTAGGTTGTCTGAGACTTGACGA
Phenotype
MIM: 615587 MIM: 609288
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NUP188 PubMed Links

Gene Details

Gene
NUP188
Gene Name
nucleoporin 188
There are no transcripts associated with this gene.

Gene
SH3GLB2
Gene Name
SH3 domain containing GRB2 like endophilin B2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287045.1 1047 Silent Mutation TAC,TAT Y268Y NP_001273974.1
NM_001287046.1 1047 Silent Mutation TAC,TAT Y264Y NP_001273975.1
NM_020145.3 1047 Silent Mutation TAC,TAT Y264Y NP_064530.1
XM_005252098.2 1047 Silent Mutation TAC,TAT Y264Y XP_005252155.1
XM_005252100.2 1047 Silent Mutation TAC,TAT Y243Y XP_005252157.1
XM_005252101.3 1047 UTR 5 XP_005252158.1
XM_006717188.2 1047 Silent Mutation TAC,TAT Y292Y XP_006717251.1
XM_006717189.2 1047 Silent Mutation TAC,TAT Y288Y XP_006717252.1
XM_006717190.1 1047 Silent Mutation TAC,TAT Y292Y XP_006717253.1
XM_006717191.1 1047 Silent Mutation TAC,TAT Y268Y XP_006717254.1

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