Product Details

SNP ID
rs11717
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129008210 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGCTGCTCCGGGCCCAACACCAG[A/C]CCTGGCCAGGCTCTCCCCTCCCAGG
Phenotype
MIM: 615587 MIM: 609288
Polymorphism
A/C, Transversion 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 1917 UTR 3 NP_001273974.1
NM_001287046.1 1917 Intron NP_001273975.1
NM_020145.3 1917 UTR 3 NP_064530.1
XM_005252098.2 1917 UTR 3 XP_005252155.1
XM_005252100.2 1917 UTR 3 XP_005252157.1
XM_005252101.3 1917 UTR 3 XP_005252158.1
XM_006717188.2 1917 UTR 3 XP_006717251.1
XM_006717189.2 1917 UTR 3 XP_006717252.1
XM_006717190.1 1917 UTR 3 XP_006717253.1
XM_006717191.1 1917 UTR 3 XP_006717254.1

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