Product Details

SNP ID
rs112876681
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:50068784 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTTAAACTTCTTGTGTAGAAAT[A/C]TCAGTGCTTGTGGAGGTTTTGAAGT
Phenotype
MIM: 614951
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
HEATR3 PubMed Links

Gene Details

Gene
HEATR3
Gene Name
HEAT repeat containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005256013.2 346 Missense Mutation ATC,CTC I20L XP_005256070.1
XM_011523188.2 346 UTR 5 XP_011521490.1
XM_017023385.1 346 UTR 5 XP_016878874.1
XM_017023386.1 346 UTR 5 XP_016878875.1

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