RGD:15161894 Rat Genome Database

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Variant: RGD:15161894 -  Homo sapiens

RGD ID: 15161894
RS ID: rs145708234
ClinVar ID: CV706906
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: QSOX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 180,165,718
GRCh38 1 180,196,583
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001004128.3:c.1790C>T
NM_002826.5:c.1790C>T
NC_000001.11:g.180196583C>T
NC_000001.10:g.180165718C>T
More... 		06/21/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:QSOX1
Accession:NM_002826
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 597
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTW
KALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDT
WPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLL
FRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFP
VLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGSEPHF
RGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSS
HNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAA
APELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVLAEGPEASRPPKLHPGLRAAPGQEPPEHMAELQRNEQEQPLGQW
HLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSSKQLVDIPEGQLEARAGRGRGQWLQVLGGGFSYLDISLCVGLYSLS
FMGLLAMYTYFQAKIRALKGHAGHPAA*

Gene Symbol:QSOX1
Accession:XM_047426230
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 597
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTW
KALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDT
WPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLL
FRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFP
VLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGSEPHF
RGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSS
HNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAA
APELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVLAEGPEASRPPKLHPGLRAAPGQEPPEHMAELQRNEQEQPLGQW
HLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSSKQLVDIPEGQLEARAGRGRGQWLQLI*

Gene Symbol:QSOX1
Accession:NM_001004128
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 597
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTW
KALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDT
WPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLL
FRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFP
VLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGSEPHF
RGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSS
HNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAA
APELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVLAEGPELI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000970171 CLINVAR
dbSNP (RS) rs145708234 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene QSOX1 CLINVAR
OMIM 603120 CLINVAR