Product Details

SNP ID
rs188489910
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73814035 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTATTACTATAATCAAGGCACAC[A/T]GGGGCCTCAACTATCCTGCCTGCAA
Phenotype
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
C2orf78 PubMed Links

Gene Details

Gene
C2orf78
Gene Name
chromosome 2 open reading frame 78
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080474.1 777 Missense Mutation CAG,CTG Q219L NP_001073943.1
XM_005264302.3 777 Missense Mutation CAG,CTG Q219L XP_005264359.1

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