Product Details

SNP ID

rs200646712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66565688 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCATACCCAAATTCTTTATGGCC[A/G]AGTAGGCATTGGAGGGCAAGCCGCC

Phenotype

MIM: 102574 MIM: 603539

Polymorphism

A/G, 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	868	Missense Mutation	TCG,TTG	S343L	NP_003784.2
XM_011545328.2	868	Missense Mutation	TCG,TTG	S283L	XP_011543630.1

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