RGD:126923505 Rat Genome Database

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Variant: RGD:126923505 -  Homo sapiens

RGD ID: 126923505
RS ID: rs750198798
ClinVar ID: CV1048102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 69,983,351
GRCh38 12 69,589,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198842.2:c.392A>G
NM_006431.3:c.533A>G
NC_000012.12:g.69589571A>G
NC_000012.11:g.69983351A>G
More... 		01/29/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CCT2
Accession:NM_001198842
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDKILLSSGRDASLMVTNDGATILKNIGVDNPAAKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTII
AGWREATKAAREALLSSAVDHGSDEVKFRQDLMNIAGTTLSSKLLTHHKDRFTKLAVEAVLRLKGSGNLEAIHIIKKLGG
SLADSYLDEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGI
NCFINRQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVAL
GEACTIVLRGATQQILDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLP
TIIADNAGYDSADLVAQLRAAHSEGNTTAGLDMREGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRK
RVPDHHPC*

Gene Symbol:CCT2
Accession:NM_006431
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLSLAPVNIFKAGADEERAETARLTSFIGAIAIGDLVKSTLGPKGMDKILLSSGRDASLMVTNDGATILKNIGVDNPA
AKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTIIAGWREATKAAREALLSSAVDHGSDEVKFRQDLM
NIAGTTLSSKLLTHHKDRFTKLAVEAVLRLKGSGNLEAIHIIKKLGGSLADSYLDEGFLLDKKIGVNQPKRIENAKILIA
NTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFINRQLIYNYPEQLFGAAGVMAIEHADFAGV
ERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQILDEAERSLHDALCVLAQT
VKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEGNTTAGLDM
REGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRKRVPDHHPC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001365922 CLINVAR
dbSNP (RS) rs750198798 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCT2 CLINVAR
OMIM 605139 CLINVAR