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SNP ID

rs138699570

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66551563 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTAGGCCAGATAAAGGCAAGATG[C/T]GCTTCCACAAAATCGCCAACGTTAA

Phenotype

MIM: 102574

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTN3 PubMed Links

Gene Details

Gene

ACTN3

Gene Name

actinin alpha 3 (gene/pseudogene)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001104.3	543	Missense Mutation	CGC,TGC	R100C	NP_001095.2
NM_001258371.2	543	Missense Mutation	CGC,TGC	R143C	NP_001245300.2

Gene

ZDHHC24

Gene Name

zinc finger DHHC-type containing 24

There are no transcripts associated with this gene.

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