Product Details

SNP ID
rs138578557
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20116392 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGACGTCGCTGAAGCTGGCGTGG[C/T]GAGGCACGTTCTGCAGCTCCAGTTT
Phenotype
MIM: 609030 MIM: 601180 MIM: 611151
Polymorphism
C/T, 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278639.1 441 Nonsense Mutation CGA,TGA R70* NP_001265568.1
NM_001278640.1 441 Intron NP_001265569.1
NM_001278641.1 441 Intron NP_001265570.1
NM_002882.3 441 Intron NP_002873.1
XM_011530289.2 441 Intron XP_011528591.1
XM_011530290.2 441 Intron XP_011528592.1
XM_011530291.2 441 Intron XP_011528593.1
XM_017028890.1 441 Intron XP_016884379.1
XM_017028891.1 441 Intron XP_016884380.1
XM_017028892.1 441 Intron XP_016884381.1
Gene
TRMT2A
Gene Name
tRNA methyltransferase 2 homolog A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257994.1 441 Missense Mutation CAC,CGC H82R NP_001244923.1
NM_022727.5 441 Missense Mutation CAC,CGC H82R NP_073564.3
NM_182984.4 441 Missense Mutation CAC,CGC H82R NP_892029.2
XM_011530139.2 441 Missense Mutation CAC,CGC H82R XP_011528441.1
XM_011530141.1 441 Intron XP_011528443.1
XM_011530142.2 441 Intron XP_011528444.1
XM_017028770.1 441 Missense Mutation CAC,CGC H82R XP_016884259.1

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