Search Thermo Fisher Scientific
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TATCATCCAGCCCCGCCAGTGTACA[C/G]AGCAAAGATTTTCTGCCTCCTCAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604103 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MYOT 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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MYOT - myotilin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135940.1 | 454 | Intron | NP_001129412.1 | |||
NM_001300911.1 | 454 | Intron | NP_001287840.1 | |||
NM_006790.2 | 454 | Missense Mutation | CAG,GAG | Q,E 49 | NP_006781.1 | |
XM_017010060.1 | 454 | Intron | XP_016865549.1 | |||
XM_017010061.1 | 454 | UTR 5 | XP_016865550.1 | |||
XM_017010062.1 | 454 | Intron | XP_016865551.1 |