Product Details

SNP ID: rs201654453
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:57238045 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCTCATCTGTTTCTTGCTTTTCAG[C/T]GTTTTCCATTGGGAGGTGATGATGA
Phenotype: MIM: 604299
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: APPL1 PubMed Links

Gene Details

Gene: APPL1
Gene Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012096.2	414	Missense Mutation	CGT,TGT	R72C	NP_036228.1
XM_011533583.2	414	Missense Mutation	CGT,TGT	R55C	XP_011531885.1