RGD:12837336 Rat Genome Database

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Variant: RGD:12837336 -  Homo sapiens

RGD ID: 12837336
RS ID: rs1057524043
ClinVar ID: CV376556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 70,120,191
GRCh38 17 72,124,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000346.4:c.1193A>G
NM_000346.3:c.1193A>G
NG_012490.1:g.8031A>G
NP_000337.1:p.Lys398Arg
More... 		12/20/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SOX9
Accession:NM_000346
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 398
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQV
LKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAER
LRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYG
ISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIRTE
QLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000424986 CLINVAR
dbSNP (RS) rs1057524043 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SOX9 CLINVAR
OMIM 608160 CLINVAR