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CCTCTCATACTTTGGATTGCCTTTC[A/C]TCCGTCCACTCCTGTTTTGTGCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300482 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GAB3 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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GAB3 - GRB2 associated binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001081573.2 | 1768 | Missense Mutation | GAG,GAT | E,D 581 | NP_001075042.1 | |
NM_001282283.1 | 1768 | Missense Mutation | GAG,GAT | E,D 542 | NP_001269212.1 | |
NM_080612.3 | 1768 | Missense Mutation | GAG,GAT | E,D 580 | NP_542179.1 | |
XM_005274648.1 | 1768 | Missense Mutation | GAG,GAT | E,D 581 | XP_005274705.1 | |
XM_006724804.1 | 1768 | Missense Mutation | GAG,GAT | E,D 581 | XP_006724867.1 | |
XM_011531103.1 | 1768 | Missense Mutation | GAG,GAT | E,D 581 | XP_011529405.1 | |
XM_011531105.1 | 1768 | Missense Mutation | GAG,GAT | E,D 581 | XP_011529407.1 | |
XM_011531106.1 | 1768 | Missense Mutation | GAG,GAT | E,D 542 | XP_011529408.1 | |
XM_017029276.1 | 1768 | Missense Mutation | GAG,GAT | E,D 581 | XP_016884765.1 |