Product Details

SNP ID
rs146549832
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:169792777 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTTAACAGTCTAAGGAAAGTCT[C/G]GTGCAAATTACTATAATAATCTGGG
Phenotype
MIM: 615255
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
C1orf112 PubMed Links

Gene Details

Gene
C1orf112
Gene Name
chromosome 1 open reading frame 112
There are no transcripts associated with this gene.

Gene
METTL18
Gene Name
methyltransferase like 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320199.1 1178 Missense Mutation CAG,GAG Q307E NP_001307128.1
NM_001320201.1 1178 Missense Mutation CAG,GAG Q307E NP_001307130.1
NM_033418.3 1178 Missense Mutation CAG,GAG Q307E NP_219486.1
XM_006711627.3 1178 Missense Mutation CAG,GAG Q307E XP_006711690.1

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