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GAGATTGTGGGAGCTGAGAGGCCCA[C/T]CTGGGGAGGAGGCAAAGAGGAACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 605593 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MTMR11 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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MTMR11 - myotubularin related protein 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145862.1 | 3036 | Missense Mutation | ATG,GTG | M,V 648 | NP_001139334.1 | |
NM_181873.3 | 3036 | Missense Mutation | ATG,GTG | M,V 576 | NP_870988.2 | |
XM_006711137.1 | 3036 | Missense Mutation | ATG,GTG | M,V 576 | XP_006711200.1 | |
XM_011509099.2 | 3036 | UTR 3 | XP_011507401.1 |
SF3B4 - splicing factor 3b subunit 4 | ||||||
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There are no transcripts associated with this gene. |