rs561104222 Rat Genome Database

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Variant: rs561104222 -  Homo sapiens

RGD ID: 15193581
RS ID: rs561104222
ClinVar ID: CV701363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 95,170
GRCh38 10 49,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_177987.3:c.9G>A
NG_046777.1:g.32226G>A
NC_000010.11:g.49230C>T
NC_000010.10:g.95170C>T
More... 		12/01/2022 synonymous variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBB8
Accession:NM_001389619
Location:5UTRS;INTRON

Gene Symbol:TUBB8
Accession:NM_001389618
Location:5UTRS;INTRON

Gene Symbol:TUBB8
Accession:NM_177987
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVLTQIGQCGNQIGAKFWEVISDEHAIDSAGTYHGDSHLQLERINVYYNEASGGRYVPRAVLVDLEPGTMDSVRSGP
FGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYP
DRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLTAAAIFRGR
MPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:XM_017016193
Location:INTRON

Gene Symbol:TUBB8
Accession:XM_047425177
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000955412 CLINVAR
dbSNP (RS) rs561104222 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TUBB8 CLINVAR
OMIM 616768 CLINVAR