Product Details

SNP ID

rs2008701

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:20116712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACCCAGACCTCCGTCGGTGCACT[C/T]TGCACTCAGCCCTGCCCCTCCCCCA

Phenotype

MIM: 609030 MIM: 601180 MIM: 611151

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DGCR8 PubMed Links

Additional Information

For this assay, SNP(s) [rs114221480] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

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