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CACTTGCGGAAGATCTCAGGGCTGG[A/T]GCTGCAGTTCAGTCTACCTTCCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611300 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LARP6 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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LARP6 - La ribonucleoprotein domain family member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286679.1 | 1134 | Missense Mutation | ACC,TCC | T,S 224 | NP_001273608.1 | |
NM_018357.3 | 1134 | Missense Mutation | ACC,TCC | T,S 408 | NP_060827.2 | |
NM_197958.2 | 1134 | Intron | NP_932062.1 |