RGD:15166327 Rat Genome Database

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Variant: RGD:15166327 -  Homo sapiens

RGD ID: 15166327
RS ID: rs770275598
ClinVar ID: CV740533
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 90,002,116
GRCh38 16 89,935,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027810.1:g.18700G>T
NC_000016.10:g.89935708G>T
NC_000016.9:g.90002116G>T
NM_006086.3:c.1257G>T
More... 		12/15/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBB3
Accession:NM_001197181
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLI
SKVREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSAT
MSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLT
VATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTAMFRRK
AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK*

Gene Symbol:TUBB3
Accession:NM_006086
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 419
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYVPRAILVDLEPGTMDSVRSGA
FGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYP
DRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGR
MSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904419 CLINVAR
dbSNP (RS) rs770275598 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TUBB3 CLINVAR
OMIM 602661 CLINVAR