Product Details

SNP ID
rs145087378
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66564641 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGAGAGGGCGGGAGATCCCGTGG[C/T]GGTAAAACTGGAGGTGGAGAAGGAG
Phenotype
MIM: 102574 MIM: 603539
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ACTN3 PubMed Links

Gene Details

Gene
ACTN3
Gene Name
actinin alpha 3 (gene/pseudogene)
There are no transcripts associated with this gene.

Gene
CTSF
Gene Name
cathepsin F
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003793.3 1078 Missense Mutation CAC,CGC H413R NP_003784.2
XM_011545328.2 1078 Missense Mutation CAC,CGC H353R XP_011543630.1

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