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AATCAGGCTGTGTTCTCTGCCATGT[A/G]TCACTCTCATAATATCAAAAGCCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 608783 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMYD3 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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SMYD3 - SET and MYND domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167740.1 | 1161 | Missense Mutation | ACA,ATA | T,I 403 | NP_001161212.1 | |
NM_022743.2 | 1161 | Missense Mutation | ACA,ATA | T,I 344 | NP_073580.1 | |
XM_011544253.1 | 1161 | Missense Mutation | ACA,ATA | T,I 366 | XP_011542555.1 | |
XM_011544254.2 | 1161 | Missense Mutation | ACA,ATA | T,I 261 | XP_011542556.1 | |
XM_011544257.1 | 1161 | Missense Mutation | ACA,ATA | T,I 233 | XP_011542559.1 | |
XM_011544258.2 | 1161 | Missense Mutation | ACA,ATA | T,I 214 | XP_011542560.1 | |
XM_011544259.2 | 1161 | Missense Mutation | ACA,ATA | T,I 214 | XP_011542561.1 | |
XM_011544260.1 | 1161 | Missense Mutation | ACA,ATA | T,I 214 | XP_011542562.1 | |
XM_011544261.2 | 1161 | Missense Mutation | ACA,ATA | T,I 214 | XP_011542563.1 | |
XM_017002094.1 | 1161 | Missense Mutation | ACA,ATA | T,I 214 | XP_016857583.1 | |
XM_017002095.1 | 1161 | Missense Mutation | ACA,ATA | T,I 211 | XP_016857584.1 |