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GACCTTGGCCTTCTCTGCTGAGAAG[C/T]TGCAGGACTGCATGTGACCCTGGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 102574 MIM: 603539 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACTN3 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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ACTN3 - actinin alpha 3 (gene/pseudogene) | ||||||
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There are no transcripts associated with this gene. |
CTSF - cathepsin F | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003793.3 | 940 | Missense Mutation | AAC,AGC | N,S 367 | NP_003784.2 | |
XM_011545328.2 | 940 | Missense Mutation | AAC,AGC | N,S 307 | XP_011543630.1 |