Product Details

SNP ID

rs199718994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:20116227 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGCCAGGCGCACACTGAGTGGG[C/T]GGCCTTTCCAGAGGGCACCATGCAA

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	606	Missense Mutation	CGG,TGG	R15W	NP_001265568.1
NM_001278640.1	606	Intron			NP_001265569.1
NM_001278641.1	606	Intron			NP_001265570.1
NM_002882.3	606	Intron			NP_002873.1
XM_011530289.2	606	Intron			XP_011528591.1
XM_011530290.2	606	Intron			XP_011528592.1
XM_011530291.2	606	Intron			XP_011528593.1
XM_017028890.1	606	Intron			XP_016884379.1
XM_017028891.1	606	Intron			XP_016884380.1
XM_017028892.1	606	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	606	Missense Mutation	CAC,CGC	H137R	NP_001244923.1
NM_022727.5	606	Missense Mutation	CAC,CGC	H137R	NP_073564.3
NM_182984.4	606	Missense Mutation	CAC,CGC	H137R	NP_892029.2
XM_011530139.2	606	Missense Mutation	CAC,CGC	H137R	XP_011528441.1
XM_011530141.1	606	Intron			XP_011528443.1
XM_011530142.2	606	Intron			XP_011528444.1
XM_017028770.1	606	Missense Mutation	CAC,CGC	H137R	XP_016884259.1

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