Product Details

SNP ID

rs186994183

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:69587951 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGATATGTCAAGGGTTCAAGATG[A/G]TGAAGTTGGTGATGGCACTACCTCT

Phenotype

MIM: 605139 MIM: 607743

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCT2 PubMed Links

Gene Details

Gene

CCT2

Gene Name

chaperonin containing TCP1 subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198842.1	372	Missense Mutation	GAT,GGT	D46G	NP_001185771.1
NM_006431.2	372	Missense Mutation	GAT,GGT	D93G	NP_006422.1

Gene

FRS2

Gene Name

fibroblast growth factor receptor substrate 2

There are no transcripts associated with this gene.

Gene

MIR3913-1

Gene Name

microRNA 3913-1

There are no transcripts associated with this gene.

Gene

MIR3913-2

Gene Name

microRNA 3913-2

There are no transcripts associated with this gene.

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