Product Details

SNP ID
rs138061980
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20112936 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACAAAGTTGCCCATGGCTGCCC[A/G]GGGGTTGCATGAGACGTACAGCAGC
Phenotype
MIM: 609030 MIM: 601180 MIM: 611151
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DGCR8 PubMed Links

Gene Details

Gene
DGCR8
Gene Name
DGCR8 microprocessor complex subunit
There are no transcripts associated with this gene.

Gene
MIR6816
Gene Name
microRNA 6816
There are no transcripts associated with this gene.

Gene
RANBP1
Gene Name
RAN binding protein 1
There are no transcripts associated with this gene.

Gene
TRMT2A
Gene Name
tRNA methyltransferase 2 homolog A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257994.1 1871 Missense Mutation NP_001244923.1
NM_022727.5 1871 Missense Mutation NP_073564.3
NM_182984.4 1871 Missense Mutation NP_892029.2
XM_011530139.2 1871 Missense Mutation XP_011528441.1
XM_011530141.1 1871 Missense Mutation XP_011528443.1
XM_011530142.2 1871 Missense Mutation XP_011528444.1
XM_017028770.1 1871 Missense Mutation XP_016884259.1

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