Product Details

SNP ID

rs200976789

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:229441970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACAAACTCGAAGTAAGGATTGGA[A/C]TTTAAGCTTCCAAGCTGATCCGCTT

Phenotype

MIM: 102610 MIM: 607613

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ACTA1 PubMed Links

Gene Details

Gene

ACTA1

Gene Name

actin, alpha 1, skeletal muscle

There are no transcripts associated with this gene.

Gene

NUP133

Gene Name

nucleoporin 133

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018230.2	3497	Missense Mutation	AAG,AAT	K1135N	NP_060700.2

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