Product Details

SNP ID
rs193171026
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39700281 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCCGCTGGGGGCTCCTCCTCGCC[C/T]TCTTGCCCCCCGGAGCCGCGAGCAC
Phenotype
MIM: 164870
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERBB2 PubMed Links

Gene Details

Gene
ERBB2
Gene Name
erb-b2 receptor tyrosine kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005862.2 304 Intron NP_001005862.1
NM_001289936.1 304 Intron NP_001276865.1
NM_001289937.1 304 Missense Mutation CTC,TTC L15F NP_001276866.1
NM_001289938.1 304 Intron NP_001276867.1
NM_004448.3 304 Missense Mutation CTC,TTC L15F NP_004439.2

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