RGD:8599178 Rat Genome Database

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Variant: RGD:8599178 -  Homo sapiens

RGD ID: 8599178
RS ID: rs121918652
ClinVar ID: CV27864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC108281177  SOX2  SOX2-OT  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 181,430,537
GRCh38 3 181,712,749
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009080.1:g.5816G>C
NC_000003.12:g.181712749G>C
NC_000003.11:g.181430537G>C
NP_003097.1:p.Gly130Ala
More... 		12/05/2013 intron|intron variant|missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity AEG syndrome; Anophthalmia clinical with associated anomalies; Anophthalmia esophageal genital syndrome; Anophthalmia microphthalmia esophageal atresia; Microphthalmia and esophageal atresia syndrome; Microphthalmia syndromic 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOX2
Accession:NM_003106
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWK
LLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGALLAPGGNSMASGVGVGAGLGAGVNQRMDSY
AHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQSGPVPGTAINGTLPLSHM*

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:16932809   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013673 CLINVAR
  RCV003227462 CLINVAR
dbSNP (RS) rs121918652 CLINVAR
MedGen C1859773 CLINVAR
  C1859774 CLINVAR
NCBI Gene LOC108281177 CLINVAR
  SOX2 CLINVAR
  SOX2-OT CLINVAR
OMIM 184429 CLINVAR
  206900 CLINVAR
  616338 CLINVAR
OMIM Allele 184429.0012 CLINVAR