RGD:15183331 Rat Genome Database

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Variant: RGD:15183331 -  Homo sapiens

RGD ID: 15183331
RS ID: rs199971071
ClinVar ID: CV733926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX2  SOX2-OT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 181,431,009
GRCh38 3 181,713,221
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.861C>T
NG_009080.1:g.6288C>T
NC_000003.12:g.181713221C>T
NC_000003.11:g.181431009C>T
More... 		07/31/2018 synonymous variant likely benign 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: A to A (synonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYNMMETELKPPGPQQTSGGGGGNSTAAAAGGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWK
LLSETEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLMKKDKYTLPGGLLAPGGNSMASGVGVGAGLGAGVNQRMDSY
AHMNGWSNGSYSMMQDQLGYPQHPGLNAHGAAQMQPMHRYDVSALQYNSMTSSQTYMNGSPTYSMSYSQQGTPGMALGSM
GSVVKSEASSSPPVVTSSSHSRAPCQAGDLRDMISMYLPGAEVPEPAAPSRLHMSQHYQSGPVPGTAINGTLPLSHM*

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

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

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

Gene Symbol:SOX2-OT
Accession:NR_075089
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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002542097 CLINVAR
dbSNP (RS) rs199971071 CLINVAR
MedGen C1859773 CLINVAR
NCBI Gene SOX2 CLINVAR
  SOX2-OT CLINVAR
OMIM 184429 CLINVAR
  206900 CLINVAR
  616338 CLINVAR