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GCGTAGTAGGTTGTCTGAGACTTGA[C/T]GAACTCGTGGAGGCAGCGCAGGTGG
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) - Not Available | |||
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 | 1024 | Missense Mutation | NP_001273974.1 | |||
NM_001287046.1 | 1024 | Missense Mutation | NP_001273975.1 | |||
NM_020145.3 | 1024 | Missense Mutation | NP_064530.1 | |||
XM_005252098.2 | 1024 | Missense Mutation | XP_005252155.1 | |||
XM_005252100.2 | 1024 | Missense Mutation | XP_005252157.1 | |||
XM_005252101.3 | 1024 | UTR 5 | XP_005252158.1 | |||
XM_006717188.2 | 1024 | Missense Mutation | XP_006717251.1 | |||
XM_006717189.2 | 1024 | Missense Mutation | XP_006717252.1 | |||
XM_006717190.1 | 1024 | Missense Mutation | XP_006717253.1 | |||
XM_006717191.1 | 1024 | Missense Mutation | XP_006717254.1 |