RGD:15168079 Rat Genome Database

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Variant: RGD:15168079 -  Homo sapiens

RGD ID: 15168079
RS ID: rs761649748
ClinVar ID: CV748117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC108281177  SOX2  SOX2-OT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 181,430,199
GRCh38 3 181,712,411
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.51T>C
NG_009080.1:g.5478T>C
NC_000003.12:g.181712411T>C
NC_000003.11:g.181430199T>C
More... 		07/31/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SOX2
Accession:NM_003106
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWK
LLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSY
AHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQSGPVPGTAINGTLPLSHM*

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

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_075090
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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000927219 CLINVAR
dbSNP (RS) rs761649748 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LOC108281177 CLINVAR
  SOX2 CLINVAR
  SOX2-OT CLINVAR
OMIM 184429 CLINVAR
  616338 CLINVAR