RGD:126751888 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:126751888 -  Homo sapiens

RGD ID: 126751888
RS ID: rs753615839
ClinVar ID: CV1010586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 69,982,030
GRCh38 12 69,588,250
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.293C>T
NM_006431.3:c.434C>T
NC_000012.12:g.69588250C>T
NC_000012.11:g.69982030C>T
More...
09/11/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CCT2
Accession:NM_006431
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLSLAPVNIFKAGADEERAETARLTSFIGAIAIGDLVKSTLGPKGMDKILLSSGRDASLMVTNDGATILKNIGVDNPA
AKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTIIAGWREATKAAREALLSSVVDHGSDEVKFRQDLM
NIAGTTLSSKLLTHHKDHFTKLAVEAVLRLKGSGNLEAIHIIKKLGGSLADSYLDEGFLLDKKIGVNQPKRIENAKILIA
NTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFINRQLIYNYPEQLFGAAGVMAIEHADFAGV
ERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQILDEAERSLHDALCVLAQT
VKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEGNTTAGLDM
REGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRKRVPDHHPC*

Gene Symbol:CCT2
Accession:NM_001198842
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDKILLSSGRDASLMVTNDGATILKNIGVDNPAAKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTII
AGWREATKAAREALLSSVVDHGSDEVKFRQDLMNIAGTTLSSKLLTHHKDHFTKLAVEAVLRLKGSGNLEAIHIIKKLGG
SLADSYLDEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGI
NCFINRQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVAL
GEACTIVLRGATQQILDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLP
TIIADNAGYDSADLVAQLRAAHSEGNTTAGLDMREGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRK
RVPDHHPC*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001327006 CLINVAR
dbSNP (RS) rs753615839 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene CCT2 CLINVAR
OMIM 605139 CLINVAR