Product Details

SNP ID
rs76351450
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:71283630 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCAGTTTTGTAACTGAAGGCTG[C/T]TGATAATTTCTTCTCTCTCTCTTTG
Phenotype
MIM: 616190
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CMTR2 PubMed Links

Gene Details

Gene
CMTR2
Gene Name
cap methyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099642.1 2841 Missense Mutation AAC,AGC N764S NP_001093112.1
NM_001324374.1 2841 Missense Mutation AAC,AGC N764S NP_001311303.1
NM_001324377.1 2841 Missense Mutation AAC,AGC N764S NP_001311306.1
NM_001324378.1 2841 Missense Mutation AAC,AGC N764S NP_001311307.1
NM_001324379.1 2841 Missense Mutation AAC,AGC N764S NP_001311308.1
NM_018348.5 2841 Missense Mutation AAC,AGC N764S NP_060818.4
XM_011523228.1 2841 Missense Mutation AAC,AGC N764S XP_011521530.1
XM_011523229.1 2841 Missense Mutation AAC,AGC N764S XP_011521531.1
XM_017023444.1 2841 Missense Mutation AAC,AGC N764S XP_016878933.1

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