Product Details

SNP ID: rs138169925
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:128051228 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCAGGAGAAGCTGTGATCTTGATGG[A/G]AGTACCTTTGGAAGCCAGCTGTTCC
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	1176	Missense Mutation	CCC,TCC	P327S	NP_612146.1