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TTTTTTCTGAAGCTCTGCTCGTTTA[C/G]CAAGAAGTTCTTTGTATCTGTTGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607951 MIM: 603557 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CEP57 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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CEP57 - centrosomal protein 57 | ||||||
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There are no transcripts associated with this gene. |
MTMR2 - myotubularin related protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243571.1 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | NP_001230500.1 | |
NM_016156.5 | 2096 | Missense Mutation | GCT,GGT | A,G 602 | NP_057240.3 | |
NM_201278.2 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | NP_958435.1 | |
NM_201281.2 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | NP_958438.1 | |
XM_005274374.2 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_005274431.1 | |
XM_005274375.2 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_005274432.1 | |
XM_006718934.2 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_006718997.1 | |
XM_006718935.2 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_006718998.1 | |
XM_006718936.3 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_006718999.1 | |
XM_011543058.2 | 2096 | Missense Mutation | GCT,GGT | A,G 555 | XP_011541360.1 | |
XM_011543059.2 | 2096 | Missense Mutation | GCT,GGT | A,G 555 | XP_011541361.1 | |
XM_017018517.1 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_016874006.1 | |
XM_017018518.1 | 2096 | Missense Mutation | GCT,GGT | A,G 530 | XP_016874007.1 |