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AGAGGGCACCACAGGCATAGTGGCC[A/G]CAGCAGTGGTGGGTGAGGTGCTGCT
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615587 MIM: 609288 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUP188 PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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NUP188 - nucleoporin 188 | ||||||
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There are no transcripts associated with this gene. |
SH3GLB2 - SH3 domain containing GRB2 like endophilin B2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287045.1 | 1169 | Missense Mutation | GCG,GTG | A,V 314 | NP_001273974.1 | |
NM_001287046.1 | 1169 | Missense Mutation | GCG,GTG | A,V 305 | NP_001273975.1 | |
NM_020145.3 | 1169 | Missense Mutation | GCG,GTG | A,V 305 | NP_064530.1 | |
XM_005252098.2 | 1169 | Missense Mutation | GCG,GTG | A,V 310 | XP_005252155.1 | |
XM_005252100.2 | 1169 | Missense Mutation | GCG,GTG | A,V 289 | XP_005252157.1 | |
XM_005252101.3 | 1169 | Missense Mutation | GCG,GTG | A,V 35 | XP_005252158.1 | |
XM_006717188.2 | 1169 | Missense Mutation | GCG,GTG | A,V 338 | XP_006717251.1 | |
XM_006717189.2 | 1169 | Missense Mutation | GCG,GTG | A,V 334 | XP_006717252.1 | |
XM_006717190.1 | 1169 | Missense Mutation | GCG,GTG | A,V 333 | XP_006717253.1 | |
XM_006717191.1 | 1169 | Missense Mutation | GCG,GTG | A,V 309 | XP_006717254.1 |