Product Details

SNP ID

rs200094415

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:229432337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGTAGTCGGTGAGATCGCGGCC[C/T]GCCAGGTCCAGGCGCATGATGGCGT

Phenotype

MIM: 102610 MIM: 607613

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTA1 PubMed Links

Gene Details

Gene

ACTA1

Gene Name

actin, alpha 1, skeletal muscle

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100.3	654	Silent Mutation	GCA,GCG	A183A	NP_001091.1

Gene

NUP133

Gene Name

nucleoporin 133

There are no transcripts associated with this gene.

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