Product Details

SNP ID
rs142328329
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:87983114 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTATAAATAGTTACCTGGATATATC[G/T]TTTCACTTTTTGAATATGTTTTTGA
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
C12orf50 PubMed Links

Gene Details

Gene
C12orf50
Gene Name
chromosome 12 open reading frame 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152589.1 1619 Missense Mutation AAG,ACG K403T NP_689802.1
XM_011537985.1 1619 Intron XP_011536287.1
XM_017018886.1 1619 Missense Mutation AAG,ACG K402T XP_016874375.1
XM_017018887.1 1619 Missense Mutation AAG,ACG K457T XP_016874376.1
XM_017018888.1 1619 Missense Mutation AAG,ACG K364T XP_016874377.1

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