Product Details

SNP ID: rs150727776
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:10825264 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCAGGAAGAAGGACTTGAGGCTGC[A/G]TAAGAAATTCGACTTCTGTCTGTGC
Phenotype: MIM: 612068
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: PIRT PubMed Links

Gene Details

Gene: PIRT
Gene Name: phosphoinositide interacting regulator of transient receptor potential channels

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101387.1	677	Missense Mutation	CGC,TGC	R128C	NP_001094857.1