Product Details

SNP ID
rs143158533
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:1354236 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTCACCCTGCATGTCTGAAGTCCA[C/T]AGTGTCAGATTATCACGTAACAACT
Phenotype
MIM: 605066
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
YWHAE PubMed Links

Gene Details

Gene
YWHAE
Gene Name
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006761.4 955 Intron NP_006752.1
XM_005256784.3 955 Silent Mutation CTA,CTG L230L XP_005256841.1
XM_017025005.1 955 Silent Mutation CTA,CTG L208L XP_016880494.1

View Full Product Details