RGD:15190454 Rat Genome Database

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Variant: RGD:15190454 -  Homo sapiens

RGD ID: 15190454
RS ID: rs201828341
ClinVar ID: CV741661
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKAP8  LOC124904643  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 15,471,758
GRCh38 19 15,360,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005858.4:c.1428C>A
NG_046946.1:g.23882C>A
NC_000019.10:g.15360947G>T
NC_000019.9:g.15471758G>T
More... 		07/20/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AKAP8
Accession:NM_005858
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 476
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQGYGGYGAWSAGPANTQGAYGTGVASWQGYENYNYYGAQNTSVTTGATYSYGPASWEAAKANDGGLAAGAPAMHMASY
GPEPCTDNSDSLIAKINQRLDMMSKEGGRGGSGGGGEGIQDRESSFRFQPFESYDSRPCLPEHNPYRPSYSYDYEFDLGS
DRNGSFGGQYSECRDPARERGSLDGFMRGRGQGRFQDRSNPGTFMRSDPFVPPAASSEPLSTPWNELNYVGGRGLGGPSP
SRPPPSLFSQSMAPDYGVMGMQGAGGYDSTMPYGCGRSQPRMRDRDRPKRRGFDRFGPDGTGRKRKQFQLYEEPDTKLAR
VDSEGDFSENDDAAGDFRSGDEEFKGEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSF
DDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKRRQELMEKETAKPKPDPFKGIGQEHFFKKIEAAH
CLACDMLIPAQPQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLEKYLKGEDPFTSETVDPEMEGDDN
LGGEDKKETPEEVAADVLAEVITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEEQVPCGTAHEKGVP
KARSEAAEAGNGAETMAAEAESAQTRVAPAPAAADAEVEQTDAESKDAVPTE*

Gene Symbol:LOC124904643
Accession:XR_007067145
Location:INTRON;NON-CODING

Gene Symbol:LOC124904643
Accession:XR_007067146
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909953 CLINVAR
dbSNP (RS) rs201828341 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AKAP8 CLINVAR
OMIM 604692 CLINVAR