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GGCATAGATCAAGAAGCTGGTCCCA[C/T]GGAAAGTGGTATCTCGGGAATCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
10 submissions
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Phenotype: |
MIM: 603809 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SH3D21 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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SH3D21 - SH3 domain containing 21 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001162530.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | NP_001156002.1 | |
NM_024676.4 | 818 | Missense Mutation | CGG,TGG | R,W 138 | NP_078952.4 | |
XM_011542153.2 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_011540455.1 | |
XM_017002340.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_016857829.1 | |
XM_017002341.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_016857830.1 | |
XM_017002342.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_016857831.1 | |
XM_017002343.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_016857832.1 | |
XM_017002344.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_016857833.1 | |
XM_017002345.1 | 818 | Missense Mutation | CGG,TGG | R,W 249 | XP_016857834.1 | |
XM_017002346.1 | 818 | UTR 5 | XP_016857835.1 |
THRAP3 - thyroid hormone receptor associated protein 3 | ||||||
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There are no transcripts associated with this gene. |