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TTCCAGGAAGGGGGCAGAGACGGGG[C/T]AGGAGAAGGACTTCTAGGCCGAGGG
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 |
---|---|---|
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 |
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 | 1690 | Missense Mutation | ACC,GCC | T,A 792 | NP_001107605.1 | |
NM_024875.4 | 1690 | Missense Mutation | ACC,GCC | T,A 568 | NP_079151.2 | |
XM_005270158.2 | 1690 | Missense Mutation | ACC,GCC | T,A 496 | XP_005270215.1 | |
XM_005270159.3 | 1690 | Missense Mutation | ACC,GCC | T,A 496 | XP_005270216.1 |