Product Details

SNP ID

rs142476770

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:20112708 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACAGGATGAGCATCTCACAGTGC[A/G]GGGTCTGCGGGAACAGGTCCACTGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190326.1	1983	Intron			NP_001177255.1
NM_022720.6	1983	Intron			NP_073557.3
XM_006724268.2	1983	Intron			XP_006724331.1

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	1983	UTR 3			NP_001244923.1
NM_022727.5	1983	Missense Mutation	CCG,CTG	P578L	NP_073564.3
NM_182984.4	1983	Missense Mutation	CCG,CTG	P578L	NP_892029.2
XM_011530139.2	1983	Missense Mutation	CCG,CTG	P596L	XP_011528441.1
XM_011530141.1	1983	Missense Mutation	CCG,CTG	P270L	XP_011528443.1
XM_011530142.2	1983	Missense Mutation	CCG,CTG	P270L	XP_011528444.1
XM_017028770.1	1983	Missense Mutation	CCG,CTG	P596L	XP_016884259.1

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