rs370159337 Rat Genome Database

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Variant: rs370159337 -  Homo sapiens

RGD ID: 151738800
RS ID: rs370159337
ClinVar ID: CV1379250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBA8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 18,613,632
GRCh38 22 18,130,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018943.3:c.1079C>T
NP_001180343.1:p.Pro294Leu
NP_061816.1:p.Pro360Leu
NM_001193414.2:c.881C>T
More... 		10/22/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBA8
Accession:NM_018943
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRECISVHVGQAGVQIGNACWELFCLEHGIQADGTFDAQASKINDDDSFTTFFSETGNGKHVPRAVMIDLEPTVVDEVRA
GTYRQLFHPEQLITGKEDAANNYARGHYTVGKESIDLVLDRIRKLTDACSGLQGFLIFHSFGGGTGSGFTSLLMERLSLD
YGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLVTYAPIISAEKAYHEQLSVAEITSSCFEPNSQMVKCDPRHGKYMACCMLYR
GDVVPKDVNVAIAAIKTKRTIQFVDWCPTGFKVGINYQPLTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYA
KRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGTDSFEEENEGEEF*

Gene Symbol:TUBA8
Accession:NM_001193414
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIDLEPTVVDEVRAGTYRQLFHPEQLITGKEDAANNYARGHYTVGKESIDLVLDRIRKLTDACSGLQGFLIFHSFGGGTG
SGFTSLLMERLSLDYGKKSKLEFAIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTN
LNRLISQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLVTYAPIISAEKAYHEQLSVAEITSSCFEPNSQMVKCD
PRHGKYMACCMLYRGDVVPKDVNVAIAAIKTKRTIQFVDWCPTGFKVGINYQPLTVVPGGDLAKVQRAVCMLSNTTAIAE
AWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGTDSFEEENEGEEF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001911721 CLINVAR
dbSNP (RS) rs370159337 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TUBA8 CLINVAR
OMIM 605742 CLINVAR