Product Details

SNP ID: rs147166062
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:57238087 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGATGATGAAGTTATGAGCTCTACA[C/T]TGCAACAGTTTTCAAAAGTTATAGA
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	456	Silent Mutation	CTG,TTG	L86L	NP_036228.1
XM_011533583.2	456	Silent Mutation	CTG,TTG	L69L	XP_011531885.1