Search Thermo Fisher Scientific
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CTTGCCACACCATACTCTAAGCTGA[C/T]CACAGCAGGTTCTGATTTAGAAAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603561 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MTMR6 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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MTMR6 - myotubularin related protein 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004685.3 | 1412 | Missense Mutation | ATC,GTC | I,V 610 | NP_004676.3 | |
XM_011535306.1 | 1412 | Missense Mutation | ATC,GTC | I,V 648 | XP_011533608.1 | |
XM_011535307.1 | 1412 | UTR 3 | XP_011533609.1 | |||
XM_017020845.1 | 1412 | UTR 3 | XP_016876334.1 | |||
XM_017020846.1 | 1412 | Missense Mutation | ATC,GTC | I,V 415 | XP_016876335.1 |