RGD:15150476 Rat Genome Database

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Variant: RGD:15150476 -  Homo sapiens

RGD ID: 15150476
RS ID: rs753211033
ClinVar ID: CV754487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DUOXA2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,409,454
GRCh38 15 45,117,256
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_207581.4:c.720C>A
NG_033105.1:g.17622G>T
NG_033105.2:g.17622G>T
NG_009447.1:g.1906G>T
More... 		03/29/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DUOXA2
Accession:XM_017022180
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGT
VNTNTSYKAFSAARVTARVRLLVGLEGINITLTVARSPTAGSPMSPPHPTGTPVHQLNETIDYNEQFTWRLKENYAAEYA
NALEKGLPDPVLYLAEKFTPSSPCGLYHQYHLAGHYASATLWVAFCFWLLSNVLLSTPAPLYGGLALLTTGAFALFGVFA
LASISSVPLCPLRLGSSALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPSALRTLLDQSAKDCSQERGGSPLILGDP
LHKQAALPDLKCITTNL*

Gene Symbol:DUOXA2
Accession:NM_207581
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLWNGVLPFYPQPRHAAGFSVPLLIVILVFLALAASFLLILPGIRGHSRWFWLVRVLLSLFIGAEIVAVHFSAEWFVGT
VNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQLNETIDYNEQFTWRLKENYAAEYANALEKGLPDPVLYLAEK
FTPSSPCGLYHQYHLAGHYASATLWVAFCFWLLSNVLLSTPAPLYGGLALLTTGAFALFGVFALASISSVPLCPLRLGSS
ALTTQYGAAFWVTLATGVLCLFLGGAVVSLQYVRPSALRTLLDQSAKDCSQERGGSPLILGDPLHKQAALPDLKCITTNL
*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923483 CLINVAR
dbSNP (RS) rs753211033 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DUOXA2 CLINVAR
OMIM 612772 CLINVAR