Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACGAGAAGAGACTGCCAGCAGGGAA[C/G]GACTGTCCCGCCAAGGACAGAGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 2534 | Missense Mutation | CCT,CGT | P,R 582 | NP_001139334.1 | |
NM_181873.3 | 2534 | Missense Mutation | CCT,CGT | P,R 510 | NP_870988.2 | |
XM_006711137.1 | 2534 | Missense Mutation | CCT,CGT | P,R 510 | XP_006711200.1 | |
XM_011509099.2 | 2534 | UTR 3 | XP_011507401.1 |
SF3B4 - splicing factor 3b subunit 4 | ||||||
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There are no transcripts associated with this gene. |