Product Details

SNP ID
rs140661054
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:87983136 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTTTCACTTTTTGAATATGTTT[G/T]TGAAAAAGGAATTCGTTTTCGCCAG
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 1597 Missense Mutation AAA,CAA K396Q NP_689802.1
XM_011537985.1 1597 Intron XP_011536287.1
XM_017018886.1 1597 Missense Mutation AAA,CAA K395Q XP_016874375.1
XM_017018887.1 1597 Missense Mutation AAA,CAA K450Q XP_016874376.1
XM_017018888.1 1597 Missense Mutation AAA,CAA K357Q XP_016874377.1

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