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AGAGAGCAGTGGGTTGTAAGCAATA[C/G]GAGGCGGGGCACGGATGTTGGGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605603 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MYOZ1 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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MYOZ1 - myozenin 1 | ||||||
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There are no transcripts associated with this gene. |
SYNPO2L - synaptopodin 2 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114133.2 | 1745 | Missense Mutation | CCT,CGT | P,R 810 | NP_001107605.1 | |
NM_024875.4 | 1745 | Missense Mutation | CCT,CGT | P,R 586 | NP_079151.2 | |
XM_005270158.2 | 1745 | Missense Mutation | CCT,CGT | P,R 514 | XP_005270215.1 | |
XM_005270159.3 | 1745 | Missense Mutation | CCT,CGT | P,R 514 | XP_005270216.1 |