Product Details

SNP ID

rs183823744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100091138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCGAATGACAGCAACAGGCAGTG[A/G]AGAGAACTCCACTGGTAATGGAGGG

Phenotype

MIM: 614729 MIM: 600592 MIM: 612983 MIM: 612150 MIM: 612984 MIM: 194510

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COPS6 PubMed Links

Gene Details

Gene

COPS6

Gene Name

COP9 signalosome subunit 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006833.4	666	Missense Mutation	GAA,GGA	E212G	NP_006824.2

Gene

MCM7

Gene Name

minichromosome maintenance complex component 7

There are no transcripts associated with this gene.

Gene

MIR106B

Gene Name

microRNA 106b

There are no transcripts associated with this gene.

Gene

MIR25

Gene Name

microRNA 25

There are no transcripts associated with this gene.

Gene

MIR93

Gene Name

microRNA 93

There are no transcripts associated with this gene.

Gene

ZNF3

Gene Name

zinc finger protein 3

There are no transcripts associated with this gene.

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