Product Details

SNP ID
rs182893847
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:161350125 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACACGTCGAACCAGTGGTCCCCCA[G/T]GCAGACGCGGTTCCACTCGCAGCCA
Phenotype
MIM: 602544
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PARK2 PubMed Links

Gene Details

Gene
PARK2
Gene Name
parkin RBR E3 ubiquitin protein ligase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004562.2 1503 Missense Mutation NP_004553.2
NM_013987.2 1503 Missense Mutation NP_054642.2
NM_013988.2 1503 Missense Mutation NP_054643.2
XM_011535863.1 1503 Missense Mutation XP_011534165.1
XM_017010908.1 1503 Missense Mutation XP_016866397.1
XM_017010909.1 1503 Missense Mutation XP_016866398.1

View Full Product Details