rs869025610 Rat Genome Database

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Variant: rs869025610 -  Homo sapiens

RGD ID: 11050439
RS ID: rs869025610
ClinVar ID: CV224871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 93,547
GRCh38 10 47,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_046777.1:g.33849G>A
NC_000010.11:g.47607C>T
NC_000010.10:g.93547C>T
NP_817124.1:p.Arg262Gln
More... 		01/21/2016 missense variant pathogenic OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUBB8
Accession:XM_017016193
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQL
IENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPQLHFFMPGFAP
LTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTA
VCDIPPRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEE
EEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:NM_177987
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVLTQIGQCGNQIGAKFWEVISDEHAIDSAGTYHGDSHLQLERINVYYNEASGGRYVPRAVLVDLEPGTMDSVRSGP
FGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYP
DRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPQLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLTAAAIFRGR
MPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:NM_001389618
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVRSGPFGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLL
SKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSAT
MSGVTTCLRFPGQLNADLRKLAVNMVPFPQLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLT
AAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRK
AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:NM_001389619
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVRSGPFGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLL
SKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSAT
MSGVTTCLRFPGQLNADLRKLAVNMVPFPQLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLT
AAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRK
AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:XM_047425177
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNMPSTPLAPTTGTATCSWSASTCTTTRPAVAGTCPALCSWIWSRAPWTLCARGPSGRSSGQTTSSSGKLLSCNSGGGGF
ICSTCRANGALTSRVTLGSFCIMVVTTDDRIPGRRVTGCAVLQVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDIC
SKTLKLPTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPQLHFFMPGFAPLTSRGSQQYRALTVAELTQ
QMFDAKNMMAACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPPRGLKMSATFIGNN
TAIQELFKRVSEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*
Variant Samples
Additional References at PubMed
PMID:26789871  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208767 CLINVAR
dbSNP (RS) rs869025610 CLINVAR
MedGen C4225210 CLINVAR
NCBI Gene TUBB8 CLINVAR
OMIM 616768 CLINVAR
  616780 CLINVAR