RGD:13530598 Rat Genome Database

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Variant: RGD:13530598 -  Homo sapiens

RGD ID: 13530598
RS ID: rs1555316711
ClinVar ID: CV512104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127827417  PAX9  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 37,132,314
GRCh38 14 36,663,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001372076.1:c.217G>T
NC_000014.8:g.37132314G>T
NP_006185.1:p.Gly73Cys
NC_000014.9:g.36663109G>T
More... 		08/16/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAX9
Accession:NM_001372076
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGCSKPRVTT
PTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIY
SYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHA
VNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPAS
LAFKGMQAAREGSHSVTASAL*

Gene Symbol:PAX9
Accession:NM_006194
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGCSKPRVTT
PTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIY
SYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHA
VNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPAS
LAFKGMQAAREGSHSVTASAL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000622623 CLINVAR
dbSNP (RS) rs1555316711 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PAX9 CLINVAR
OMIM 167416 CLINVAR