rs1588269791 Rat Genome Database

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Variant: rs1588269791 -  Homo sapiens

RGD ID: 39457178
RS ID: rs1588269791
ClinVar ID: CV965796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129662602  TUBB8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 93,259
GRCh38 10 47,319
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.1073C>T
NC_000010.11:g.47319G>A
NC_000010.10:g.93259G>A
NG_046777.1:g.34137C>T
More... 		08/31/2020 missense variant likely pathogenic OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUBB8
Accession:XM_047425177
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNMPSTPLAPTTGTATCSWSASTCTTTRPAVAGTCPALCSWIWSRAPWTLCARGPSGRSSGQTTSSSGKLLSCNSGGGGF
ICSTCRANGALTSRVTLGSFCIMVVTTDDRIPGRRVTGCAVLQVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDIC
SKTLKLPTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQ
QMFDAKNMMAACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPLRGLKMSATFIGNN
TAIQELFKRVSEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:NM_177987
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVLTQIGQCGNQIGAKFWEVISDEHAIDSAGTYHGDSHLQLERINVYYNEASGGRYVPRAVLVDLEPGTMDSVRSGP
FGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYP
DRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLTAAAIFRGR
MPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPLRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:NM_001389618
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVRSGPFGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLL
SKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSAT
MSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLT
AAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPLRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRK
AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:XM_017016193
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLLSKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQL
IENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAP
LTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLTAAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTA
VCDIPLRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEE
EEDEEYAEEEVA*

Gene Symbol:TUBB8
Accession:NM_001389619
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVRSGPFGQVFRPDNFIFGQCGAGNNWAKGHYTEGAELMESVMDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLL
SKIREEYPDRIINTFSILPSPKVSDTVVEPYNATLSVHQLIENADETFCIDNEALYDICSKTLKLPTPTYGDLNHLVSAT
MSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVAELTQQMFDAKNMMAACDPRHGRYLT
AAAIFRGRMPMREVDEQMFNIQDKNSSYFADWLPNNVKTAVCDIPLRGLKMSATFIGNNTAIQELFKRVSEQFTAMFRRK
AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDEEYAEEEVA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001255451 CLINVAR
dbSNP (RS) rs1588269791 CLINVAR
MedGen C4225210 CLINVAR
NCBI Gene TUBB8 CLINVAR
OMIM 616768 CLINVAR
  616780 CLINVAR