Product Details

SNP ID
rs199935818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:70160750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAAATAGCTCATAAGTCCCATCT[C/T]GGTTCTGGATAAAGCTACGGGTGAT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2orf42 PubMed Links

Gene Details

Gene
C2orf42
Gene Name
chromosome 2 open reading frame 42
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017880.1 1912 Missense Mutation CAA,CGA Q464R NP_060350.1
XM_005264389.2 1912 Missense Mutation CAA,CGA Q464R XP_005264446.1
XM_005264390.2 1912 Missense Mutation CAA,CGA Q464R XP_005264447.1
XM_005264391.2 1912 Missense Mutation CAA,CGA Q464R XP_005264448.1
XM_011532937.2 1912 Missense Mutation CAA,CGA Q464R XP_011531239.1
XM_017004398.1 1912 Missense Mutation CAA,CGA Q464R XP_016859887.1
XM_017004399.1 1912 Missense Mutation CAA,CGA Q464R XP_016859888.1
XM_017004400.1 1912 Missense Mutation CAA,CGA Q464R XP_016859889.1

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