Product Details

SNP ID: rs139358749
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:128051356 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATTCTGGATGTCAGTGTCACACTTC[A/G]TGATGCTGCTGGAGACCATTTTTGA
Phenotype: MIM: 300487
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ACTRT1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138289.3	1048	Missense Mutation	ACG,ATG	T284M	NP_612146.1