Product Details
- SNP ID
-
rs34203414
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:129009300 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGTGGTGGGTGAGGTGCTGCTCA[A/G]GGGTGGGGAGGCGGGCTCTGTGGTG
- 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 |
1141 |
Silent Mutation |
CTG,TTG |
L305L |
NP_001273974.1 |
| NM_001287046.1 |
1141 |
Silent Mutation |
CTG,TTG |
L296L |
NP_001273975.1 |
| NM_020145.3 |
1141 |
Silent Mutation |
CTG,TTG |
L296L |
NP_064530.1 |
| XM_005252098.2 |
1141 |
Silent Mutation |
CTG,TTG |
L301L |
XP_005252155.1 |
| XM_005252100.2 |
1141 |
Silent Mutation |
CTG,TTG |
L280L |
XP_005252157.1 |
| XM_005252101.3 |
1141 |
Silent Mutation |
CTG,TTG |
L26L |
XP_005252158.1 |
| XM_006717188.2 |
1141 |
Silent Mutation |
CTG,TTG |
L329L |
XP_006717251.1 |
| XM_006717189.2 |
1141 |
Silent Mutation |
CTG,TTG |
L325L |
XP_006717252.1 |
| XM_006717190.1 |
1141 |
Silent Mutation |
CTG,TTG |
L324L |
XP_006717253.1 |
| XM_006717191.1 |
1141 |
Silent Mutation |
CTG,TTG |
L300L |
XP_006717254.1 |
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