RGD:401938095 Rat Genome Database

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Variant: RGD:401938095 -  Homo sapiens

RGD ID: 401938095
ClinVar ID: CV2812978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBAL3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 5,435,741
GRCh38 10 5,393,778
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024803.3:c.1080G>A
NM_001171864.2:c.960G>A
NC_000010.11:g.5393778C>T
NC_000010.10:g.5435741C>T
More... 		03/01/2023 synonymous variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Variant Details
Variant Transcripts
Gene Symbol:TUBAL3
Accession:NM_024803
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRECLSIHIGQAGIQIGDACWELYCLEHGIQPNGVVLDTQQDQLENAKMEHTNASFDTFFCETRAGKHVPRALFVDLEPT
VIDGIRTGQHRSLFHPEQLLSGKEDAANNYARGRYSVGSEVIDLVLERTRKLAEQCGGLQGFLIFRSFGGGTGSGFTSLL
MERLTGEYSRKTKLEFSVYPAPRISTAVVEPYNSVLTTHSTTEHTDCTFMVDNEAVYDICHRKLGVECPSHASINRLVVQ
VVSSITASLRFEGPLNVDLIEFQTNLVPYPRIHFPMTAFAPIVSADKAYHEQFSVSDITTACFESSNQLVKCDPRLGKYM
ACCLLYRGDVVPKEVNAAIAATKSRHSVQFVDWCPTGFKVGINNRPPTVMPGGDLAKVHRSICMLSNTTAIVEAWARLDH
KFDLMYAKRAFLHWYLREGMEEAEFLEAREDLAALERDYEEVAQSF*

Gene Symbol:TUBAL3
Accession:NM_001171864
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQLENAKMEHTNASFDTFFCETRAGKHVPRALFVDLEPTVIDGIRTGQHRSLFHPEQLLSGKEDAANNYARGRYSVGSE
VIDLVLERTRKLAEQCGGLQGFLIFRSFGGGTGSGFTSLLMERLTGEYSRKTKLEFSVYPAPRISTAVVEPYNSVLTTHS
TTEHTDCTFMVDNEAVYDICHRKLGVECPSHASINRLVVQVVSSITASLRFEGPLNVDLIEFQTNLVPYPRIHFPMTAFA
PIVSADKAYHEQFSVSDITTACFESSNQLVKCDPRLGKYMACCLLYRGDVVPKEVNAAIAATKSRHSVQFVDWCPTGFKV
GINNRPPTVMPGGDLAKVHRSICMLSNTTAIVEAWARLDHKFDLMYAKRAFLHWYLREGMEEAEFLEAREDLAALERDYE
EVAQSF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003417200 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TUBAL3 CLINVAR
OMIM 620835 CLINVAR