Product Details

SNP ID
rs78482881
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:187370790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTGTCTTCCTTCTGACTGCAGGT[G/T]CCGGTGTTCCTCCTGCCAGCGAAGT
Phenotype
MIM: 609350
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RTP4 PubMed Links

Gene Details

Gene
RTP4
Gene Name
receptor transporter protein 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022147.2 220 Missense Mutation TGC,TTC C53F NP_071430.2

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