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See other ACTN3 GT Assays ›
SNP ID:
rs1815739
Gene
ACTN3 CTSF
Gene Name
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

Assay ID C____590093_1_
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay 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
T (0.40)
(0.60)
Caucasian
T (0.36)
(0.64)
CEPH (CEU)
C (0.49)
(0.51)
EAS
T (0.44)
(0.56)
African American
T (0.24)
(0.76)
YRI (Yoruba)
T (0.08)
(0.92)
SAS
C (0.41)
(0.59)
Japanese
C (0.42)
(0.58)
JPT (Japanese)
T (0.49)
(0.51)
AFR
T (0.12)
(0.88)
Chinese
T (0.47)
(0.53)
CHB (Han Chinese)
T (0.47)
(0.53)
EUR
T (0.43)
(0.57)
AMR
C (0.43)
(0.57)
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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