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TCCCGGACCATGTGACGCGCCCCGT[A/G]CAGGGTGCGCAACAGCCGCTCACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604721 MIM: 604504 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SH2D3A 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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SH2D3A - SH2 domain containing 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005490.2 | 1375 | Missense Mutation | CAC,TAC | H,Y 502 | NP_005481.2 | |
XM_005259467.1 | 1375 | Missense Mutation | CAC,TAC | H,Y 531 | XP_005259524.1 | |
XM_005259472.2 | 1375 | Missense Mutation | CAC,TAC | H,Y 409 | XP_005259529.1 | |
XM_006722602.1 | 1375 | Missense Mutation | CAC,TAC | H,Y 411 | XP_006722665.1 | |
XM_011527608.2 | 1375 | Missense Mutation | CAC,TAC | H,Y 436 | XP_011525910.1 | |
XM_011527609.2 | 1375 | Missense Mutation | CAC,TAC | H,Y 436 | XP_011525911.1 | |
XM_017026123.1 | 1375 | Intron | XP_016881612.1 | |||
XM_017026124.1 | 1375 | Intron | XP_016881613.1 |
TRIP10 - thyroid hormone receptor interactor 10 | ||||||
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There are no transcripts associated with this gene. |