Product Details

SNP ID
rs199976454
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7963566 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCCGTTCAGGCTGGCTATGGCCA[A/T]CGCGGCTTCTTCATAGTTTGTCATG
Phenotype
MIM: 603466
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ELAVL1 PubMed Links

Gene Details

Gene
ELAVL1
Gene Name
ELAV like RNA binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001419.2 1065 Missense Mutation ATG,TTG M300L NP_001410.2

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