RGD:13832833 Rat Genome Database

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Variant: RGD:13832833 -  Homo sapiens

RGD ID: 13832833
RS ID: rs1262795478
ClinVar ID: CV584057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC108281177  SOX2  SOX2-OT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 181,430,496
GRCh38 3 181,712,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003106.4:c.348C>T
LRG_719:g.5775C>T
NG_009080.1:g.5775C>T
NC_000003.12:g.181712708C>T
More... 		07/10/2017 synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SOX2
Accession:NM_003106
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWK
LLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSY
AHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQSGPVPGTAINGTLPLSHM*

Gene Symbol:SOX2-OT
Accession:NR_075091
Location:INTRON;NON-CODING

Gene Symbol:SOX2-OT
Accession:NR_004053
Location:INTRON;NON-CODING

Gene Symbol:SOX2-OT
Accession:NR_075092
Location:INTRON;NON-CODING

Gene Symbol:SOX2-OT
Accession:NR_075093
Location:INTRON;NON-CODING

Gene Symbol:SOX2-OT
Accession:NR_075089
Location:INTRON;NON-CODING

Gene Symbol:SOX2-OT
Accession:NR_075090
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000727911 CLINVAR
dbSNP (RS) rs1262795478 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LOC108281177 CLINVAR
  SOX2 CLINVAR
  SOX2-OT CLINVAR
OMIM 184429 CLINVAR
  616338 CLINVAR