Product Details

SNP ID

rs142523550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66564134 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCTGTTCTTGATGGCCCAAAAG[A/G]GAACGTCAGAGCCTGGGGTGCAGTG

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)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001104.3	1174	Intron			NP_001095.2
NM_001258371.2	1174	Intron			NP_001245300.2

Gene

CTSF

Gene Name

cathepsin F

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003793.3	1174	Missense Mutation	CCC,CTC	P445L	NP_003784.2
XM_011545328.2	1174	Missense Mutation	CCC,CTC	P385L	XP_011543630.1

View Full Product Details