Product Details

SNP ID
rs74725229
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:42888342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACATGCATAAATGAGGACAAGGA[A/G]AAGCCAGTCACTCCTGACTGCACGG
Phenotype
MIM: 607441
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPSTI1 PubMed Links

Gene Details

Gene
EPSTI1
Gene Name
epithelial stromal interaction 1 (breast)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005266596.1 1623 Missense Mutation CTC,TTC L370F XP_005266653.1
XM_005266597.1 1623 UTR 3 XP_005266654.1
XM_006719896.3 1623 Intron XP_006719959.1
XM_011535312.1 1623 Missense Mutation CTC,TTC L254F XP_011533614.1
XM_011535313.1 1623 Missense Mutation CTC,TTC L254F XP_011533615.1
XM_011535314.1 1623 Missense Mutation CTC,TTC L199F XP_011533616.1
XM_017020853.1 1623 Missense Mutation CTC,TTC L254F XP_016876342.1
XM_017020854.1 1623 Missense Mutation CTC,TTC L254F XP_016876343.1
XM_017020855.1 1623 Missense Mutation CTC,TTC L254F XP_016876344.1

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