RGD:126749350 Rat Genome Database

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Variant: RGD:126749350 -  Homo sapiens

RGD ID: 126749350
RS ID: rs551629629
ClinVar ID: CV1010588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 69,986,846
GRCh38 12 69,593,066
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.700C>T
NM_006431.3:c.841C>T
NC_000012.12:g.69593066C>T
NC_000012.11:g.69986846C>T
More... 		07/10/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CCT2
Accession:NM_001198842
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDKILLSSGRDASLMVTNDGATILKNIGVDNPAAKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTII
AGWREATKAAREALLSSAVDHGSDEVKFRQDLMNIAGTTLSSKLLTHHKDHFTKLAVEAVLRLKGSGNLEAIHIIKKLGG
SLADSYLDEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVECILKHGI
NCFINRQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVAL
GEACTIVLRGATQQILDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLP
TIIADNAGYDSADLVAQLRAAHSEGNTTAGLDMREGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRK
RVPDHHPC*

Gene Symbol:CCT2
Accession:NM_006431
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLSLAPVNIFKAGADEERAETARLTSFIGAIAIGDLVKSTLGPKGMDKILLSSGRDASLMVTNDGATILKNIGVDNPA
AKVLVDMSRVQDDEVGDGTTSVTVLAAELLREAESLIAKKIHPQTIIAGWREATKAAREALLSSAVDHGSDEVKFRQDLM
NIAGTTLSSKLLTHHKDHFTKLAVEAVLRLKGSGNLEAIHIIKKLGGSLADSYLDEGFLLDKKIGVNQPKRIENAKILIA
NTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVECILKHGINCFINRQLIYNYPEQLFGAAGVMAIEHADFAGV
ERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQILDEAERSLHDALCVLAQT
VKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEGNTTAGLDM
REGTIGDMAILGITESFQVKRQVLLSAAEAAEVILRVDNIIKAAPRKRVPDHHPC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001315702 CLINVAR
dbSNP (RS) rs551629629 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCT2 CLINVAR
OMIM 605139 CLINVAR