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ATGCATACCCAAATTCTTTATGGCC[A/G]AGTAGGCATTGGAGGGCAAGCCGCC
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 |
---|---|---|
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 |
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 | 868 | Missense Mutation | TCG,TTG | S,L 343 | NP_003784.2 | |
XM_011545328.2 | 868 | Missense Mutation | TCG,TTG | S,L 283 | XP_011543630.1 |