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TGGCCGACGAGGCCTCCATGGACAG[C/T]GGGGCACGCTGGCAGCGCGGGAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605093 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SH2B3 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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SH2B3 - SH2B adaptor protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291424.1 | 685 | Intron | NP_001278353.1 | |||
NM_005475.2 | 685 | Silent Mutation | AGC,AGT | S,S 213 | NP_005466.1 | |
XM_005253818.4 | 685 | Missense Mutation | AGC,AGT | S,S 213 | XP_005253875.1 | |
XM_005253819.4 | 685 | Missense Mutation | AGC,AGT | S,S 213 | XP_005253876.1 | |
XM_006719180.3 | 685 | Intron | XP_006719243.1 | |||
XM_011537719.2 | 685 | Missense Mutation | AGC,AGT | S,S 213 | XP_011536021.1 | |
XM_011537720.2 | 685 | Missense Mutation | AGC,AGT | S,S 213 | XP_011536022.1 | |
XM_011537721.2 | 685 | Intron | XP_011536023.1 |