Product Details

SNP ID
rs17352063
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129008781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGTCCATGCCAGGCAGGCTGTAG[A/G]CAGTGATGAGCTGCAGAGATGGCAG
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 1346 Missense Mutation GCC,GTC A373V NP_001273974.1
NM_001287046.1 1346 Missense Mutation GCC,GTC A364V NP_001273975.1
NM_020145.3 1346 Missense Mutation GCC,GTC A364V NP_064530.1
XM_005252098.2 1346 Missense Mutation GCC,GTC A369V XP_005252155.1
XM_005252100.2 1346 Missense Mutation GCC,GTC A348V XP_005252157.1
XM_005252101.3 1346 Missense Mutation GCC,GTC A94V XP_005252158.1
XM_006717188.2 1346 Missense Mutation GCC,GTC A397V XP_006717251.1
XM_006717189.2 1346 Missense Mutation GCC,GTC A393V XP_006717252.1
XM_006717190.1 1346 Missense Mutation GCC,GTC A392V XP_006717253.1
XM_006717191.1 1346 Missense Mutation GCC,GTC A368V XP_006717254.1

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