Product Details

SNP ID

rs200680599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:20116057 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCACTTGGCAAGTTTCTGCAGCA[C/T]CTGCTCGCACTCCAGCTGCTTCCGC

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	776	UTR 5			NP_001265568.1
NM_001278640.1	776	Intron			NP_001265569.1
NM_001278641.1	776	Intron			NP_001265570.1
NM_002882.3	776	Intron			NP_002873.1
XM_011530289.2	776	Intron			XP_011528591.1
XM_011530290.2	776	Intron			XP_011528592.1
XM_011530291.2	776	Intron			XP_011528593.1
XM_017028890.1	776	Intron			XP_016884379.1
XM_017028891.1	776	Intron			XP_016884380.1
XM_017028892.1	776	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	776	Missense Mutation	ATG,GTG	M194V	NP_001244923.1
NM_022727.5	776	Missense Mutation	ATG,GTG	M194V	NP_073564.3
NM_182984.4	776	Missense Mutation	ATG,GTG	M194V	NP_892029.2
XM_011530139.2	776	Missense Mutation	ATG,GTG	M194V	XP_011528441.1
XM_011530141.1	776	UTR 5			XP_011528443.1
XM_011530142.2	776	Intron			XP_011528444.1
XM_017028770.1	776	Missense Mutation	ATG,GTG	M194V	XP_016884259.1

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