RGD:13828677 Rat Genome Database

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Variant: RGD:13828677 -  Homo sapiens

RGD ID: 13828677
RS ID: rs746873311
ClinVar ID: CV580566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHANK3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 51,159,648
GRCh38 22 50,721,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033517.1:c.3387A>G
NC_000022.11:g.50721220A>G
NC_000022.10:g.51159648A>G
NP_277052.1:p.Thr1129=
More... 		03/30/2017 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SHANK3
Accession:NM_001372044
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 1193

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLSRAAAAAAAAPAEPPEPLSPAPAPAPAPPGPLPRSAADGAPAGGKGGPGRRARSPRALRSPARAAPARAPARGWTAP
GPAPWSCASASRTCSRRSACAWTRPRPCGPPSSACSAPSTTASRTRSTMGFSSRPPGAAPASSWMRSGSCRSTRPTWTRP
CPTWSFDTSGEFMPRTSSMISSLQSFTQRRT*RSSWTTSSCIARTRWHACWTRGWTPTSMTLTQESAP*ASQPSWTTPRT
C*RC*RMVVPTWTSALAMGSLPCTVPHASGMRQH*RPCWTWGLHLTTRTAAA*HPSTTAPWGVGMPSAVSCFSTTTLSWG
SPTRMAGRRSTRPAALGTCSIWSTCCSMGQTWGPRTPRGTQPCTSVPSTTRRAVLVSCSSVELTGMSATTTARQPSRWPS
SQGTLSLQRLSRPTKTRMLYHSGKPPAMRSGGDWLAPVAWHPLGLCSAQPAIST*RGRHSQQLLLDPR*EASPTSCCSSG
CKRRKIVTGMPTRRATSVAL*QAGPAKARSSVPRAPCAPRTAAPGPEAETLQRRPRPQVHRREGAQPAG*RRDPAAPRRG
REGAQHWGGRFLGGNRERPHGLVPGRLRGGSADEAA*HTA*NAGGPDEAALSALHSGLLRQPHLTQRLCH**QSGCPAET
GPRGLWFCAPGSQSRDPHRGVHAHASLPGAAVSRVGGRGGCGLEGRAAHGRLPHRGERGERGEGRTQAGGGSDSPGWQPP
RHEGCVCDKEARRGRGSAQSPTAPQEGPQHHTDPALQVHDS*ARGTCLHSEKKRGEAGRDAGSRRRANAAARHRRRRLQS
RHRQTEAHQSEDHTRRD*LIV*TPGPPRPREAAGLLAEGDSTDQVCRGGREAGVPAGRALPAEHLDARPGARGSRHPAPA
ADRAASPARALLLRLGAAPGLLAAAPAGPRLRHGALQLQARPGGAPGRGRCRPVRAGRGPRPAAVSRAAEARALHDHPAG
LGARVGRRPSTPARGHPARATQAPAAAARPRQPLRQPGRLQRQPLRSVQAAAPQEPPGEAAAGGGRAGARGPGRGQPRSR
RRQLRPRALPDPPRSAPGWPRLRRGRWPGARVRRPGPGQGPAAGGAAPLHCVPVRGGHRGQRPRRGSAIPTALPLHRRAP
PGDRPHRRPRPAAALPGVCPEAVGQRPEPGALGFHLHPPTHRQTPGPQLTPGPCPGCPRASSGLPGALPVPHARAQSRRR
PPRTPVCGCTGPGPRARVPGFPGFLPTEPSLDSCACSQGGREGPPGGAEVTRGQEVHDPQRPGHIPAAASWPHRCARHQQ
RAGAQQAGGGRRGAPGHPGVGPGPHAVSGCGRAPAQPPGPAPWWHPGRRRARPGQLRGRARAGVCCEPATCPAVVQR*GD
QGGAGPNWVGATP*RVCQRGPAGHPTRWPGPLAHHGAQPGLREAQQ*ATPCP*VCSRLWGGGG*HTQLQRPPPGDHKHHL
HGVQHVHLELGERGTH*HPHLLR*RTHFSTREATSASQAQAQVPAGEGAGDLQGPAAEAVLGQRAHGPAAPRRLCRAGLC
RRACPPSLPLPEKVQAMGGPRGEPGAPWA*RRQTNCDQ*AQLPPAAAEQGHAFPGGGTSWWPGQPAGPCQEVAHRSSSAL
QQPR*AELHFSAAQPRGPGRRGLVLGEAQWPLPRGETRPEPGEARVAGAGGGAGGGRGGRRAALRPHAPHHPQVVQPLHP
ARAQGGALRGAQRERAQSLPLAVAAALARVRPRPRRPRPTPTLPAEAAAALEQVRRGRLAGEHPPRRAPRPLRGP*DRRR
APTRAYQGRLRGAGRHARGPPHEHRARAQAAGRQL
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002317472 CLINVAR
dbSNP (RS) rs746873311 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SHANK3 CLINVAR
OMIM 606230 CLINVAR