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AATGAAGGAATGTAATGCCACCCGA[C/T]GGCCCCAGATGAGCTTCTTGAAGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
9 submissions
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Phenotype: |
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Literature Links: |
METTL13 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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METTL13 - methyltransferase like 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007239.1 | 297 | Missense Mutation | CGG,TGG | R,W 95 | NP_001007240.1 | |
NM_014955.2 | 297 | Missense Mutation | CGG,TGG | R,W 9 | NP_055770.1 | |
NM_015935.4 | 297 | Missense Mutation | CGG,TGG | R,W 95 | NP_057019.3 | |
XM_017001455.1 | 297 | Missense Mutation | CGG,TGG | R,W 9 | XP_016856944.1 | |
XM_017001456.1 | 297 | Missense Mutation | CGG,TGG | R,W 9 | XP_016856945.1 | |
XM_017001457.1 | 297 | Missense Mutation | CGG,TGG | R,W 9 | XP_016856946.1 | |
XM_017001458.1 | 297 | Missense Mutation | CGG,TGG | R,W 95 | XP_016856947.1 | |
XM_017001459.1 | 297 | Missense Mutation | CGG,TGG | R,W 9 | XP_016856948.1 |