Product Details

SNP ID

rs192777796

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:128051576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTCTCTTTGATGTTATTTACCA[C/T]GGCCTTGTTGAGTATGCAAGGGAAG

Phenotype

MIM: 300487

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACTRT1 PubMed Links

Gene Details

Gene

ACTRT1

Gene Name

actin related protein T1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138289.3	828	Missense Mutation	ATG,GTG	M211V	NP_612146.1

View Full Product Details