RGD:26887648 Rat Genome Database

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Variant: RGD:26887648 -  Homo sapiens

RGD ID: 26887648
RS ID: rs1170039850
ClinVar ID: CV840250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 69,991,002
GRCh38 12 69,597,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006431.3:c.1049A>G
NM_001198842.2:c.908A>G
NC_000012.12:g.69597222A>G
NC_000012.11:g.69991002A>G
More... 		12/17/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CCT2
Accession:NM_001198842
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDKILLSSGRDASLMVTNDGATILKNIGVDNPAAKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTII
AGWREATKAAREALLSSAVDHGSDEVKFRQDLMNIAGTTLSSKLLTHHKDHFTKLAVEAVLRLKGSGNLEAIHIIKKLGG
SLADSYLDEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGI
NCFINRQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIGEVMIGEDKLIHFSGVAL
GEACTIVLRGATQQILDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLP
TIIADNAGYDSADLVAQLRAAHSEGNTTAGLDMREGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRK
RVPDHHPC*

Gene Symbol:CCT2
Accession:NM_006431
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLSLAPVNIFKAGADEERAETARLTSFIGAIAIGDLVKSTLGPKGMDKILLSSGRDASLMVTNDGATILKNIGVDNPA
AKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTIIAGWREATKAAREALLSSAVDHGSDEVKFRQDLM
NIAGTTLSSKLLTHHKDHFTKLAVEAVLRLKGSGNLEAIHIIKKLGGSLADSYLDEGFLLDKKIGVNQPKRIENAKILIA
NTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFINRQLIYNYPEQLFGAAGVMAIEHADFAGV
ERLALVTGGEIASTFDHPELVKLGSCKLIGEVMIGEDKLIHFSGVALGEACTIVLRGATQQILDEAERSLHDALCVLAQT
VKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEGNTTAGLDM
REGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRKRVPDHHPC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001056602 CLINVAR
dbSNP (RS) rs1170039850 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCT2 CLINVAR
OMIM 605139 CLINVAR