Search Thermo Fisher Scientific
- SNP ID:
- rs1815739
- Gene
-
ACTN3
CTSF - Gene Name
- actinin alpha 3 (gene/pseudogene)
- Set Membership:
- > HapMap > Validated
- Chromosome Location:
- Chr.11: 66560624 - 66560624 on Build GRCh38
- Polymorphism:
- T/C, Transition substitution
- Context Sequence [VIC/FAM]:
CAAGGCAACACTGCCCGAGGCTGAC[T/C]GAGAGCGAGGTGCCATCATGGGCAT
Genomic Map
Back To TopAssay Details
Species: |
Human |
dbSNP Submissions: |
NA
|
Phenotype: |
MIM: 102574
MIM: 603539
|
Literature Links: |
ACTN3 PubMed Links |
Allele Nomenclature: |
|
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
|
CEPH (CEU)
|
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EAS
|
African American
|
YRI (Yoruba)
|
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SAS
|
Japanese
|
JPT (Japanese)
|
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AFR
|
Chinese
|
CHB (Han Chinese)
|
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EUR
|
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AMR
|
| ACTN3 - actinin alpha 3 (gene/pseudogene) | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001104.3 | 1974 | Nonsense Mutation | CGA,TGA | R,* 577 | NP_001095.2 | |
| NM_001258371.2 | 1974 | Nonsense Mutation | CGA,TGA | R,* 620 | NP_001245300.2 | |
| CTSF - cathepsin F | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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HapMap