Product Details

SNP ID
rs75685641
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:54334932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAAAATCACATGTTGGAAGAGGA[C/T]GTATATATTATGCTAAATTCATTAA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2orf73 PubMed Links

Gene Details

Gene
C2orf73
Gene Name
chromosome 2 open reading frame 73
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100396.1 254 Missense Mutation CGT,TGT R48C NP_001093866.1
XM_005264133.1 254 Intron XP_005264190.1
XM_005264134.3 254 Intron XP_005264191.1
XM_011532510.2 254 Missense Mutation CGT,TGT R48C XP_011530812.1
XM_011532513.2 254 Intron XP_011530815.1
XM_017003323.1 254 Intron XP_016858812.1
XM_017003324.1 254 Missense Mutation CGT,TGT R48C XP_016858813.1

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