Product Details

SNP ID: rs141475882
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:128051320 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGCCCCCGGAGAGTACAATGTCT[A/G]CATAAAGTTTATTCTGGATGTCAGT
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	1084	Missense Mutation	GCA,GTA	A296V	NP_612146.1