Product Details

SNP ID
rs7040838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129009811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAAGTCCAGCATGTGGCGGTAGC[A/T]CTGTGCGTAGTAGGTTGTCTGAGAC
Phenotype
MIM: 615587 MIM: 609288
Polymorphism
A/T, 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 1054 Missense Mutation AGC,TGC S271C NP_001273974.1
NM_001287046.1 1054 Missense Mutation AGC,TGC S267C NP_001273975.1
NM_020145.3 1054 Missense Mutation AGC,TGC S267C NP_064530.1
XM_005252098.2 1054 Missense Mutation AGC,TGC S267C XP_005252155.1
XM_005252100.2 1054 Missense Mutation AGC,TGC S246C XP_005252157.1
XM_005252101.3 1054 UTR 5 XP_005252158.1
XM_006717188.2 1054 Missense Mutation AGC,TGC S295C XP_006717251.1
XM_006717189.2 1054 Missense Mutation AGC,TGC S291C XP_006717252.1
XM_006717190.1 1054 Missense Mutation AGC,TGC S295C XP_006717253.1
XM_006717191.1 1054 Missense Mutation AGC,TGC S271C XP_006717254.1

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