RGD:401921279 Rat Genome Database

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Pathways
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Variant: RGD:401921279 -  Homo sapiens

RGD ID: 401921279
ClinVar ID: CV2826729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNF128  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 106,034,342
GRCh38 X 106,791,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_194463.2:c.1031A>G
NM_024539.3:c.953A>G
NG_012576.1:g.102275A>G
NC_000023.11:g.106791112A>G
More... 		04/01/2022 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RNF128
Accession:NM_194463
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPPPGAGVSCRGGCGFSRLLAWCFLLALSPQAPGSRGAEAVWTAYLNVSWRVPHTGVNRTVWELSEEGVYGQDSPLEPV
AGVLVPPDGPGALNACNPHTNFTVPTVWGSTVQVSWLALIQRGGGCTFADKIHLAYERGASGAVIFNFPGTRNEVIPMSH
PGAVDIVAIMIGNLKGTKILQSIQRGIQVTMVIEVGKKHGPWVNHYSIFFVSVSFFIITAATVGYFIFYSARRLRNARAQ
SRKQRQLKADAKKAIGRLQLRTLKQGDKEIGPDGDSCAVCIELYKPNDLVRILTCNHIFHKTCVDPWLLEHRTCPMCKCD
ILKALGIEVDVEDGSVSLQVPVSSEISNSASSHEEDNRSETASSGYASVQGTDEPPLEEHVQSTNESLQLVNHEANSVAV
DVIPHVDNPTFEEDETPNQETAVREIKS*

Gene Symbol:RNF128
Accession:NM_024539
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQENRSSFFWLLVIFTFLLKITASFSMSAYVTVTYYNETSNYTAIETCECGVYGLASPVANAMGVVGIPKNNNYQACDH
NTEFSNTKKPWIALIERGNCTFSEKIQTAGRRNADAVVIYNAPETGNQTIQMANFGAVDIVAIMIGNLKGTKILQSIQRG
IQVTMVIEVGKKHGPWVNHYSIFFVSVSFFIITAATVGYFIFYSARRLRNARAQSRKQRQLKADAKKAIGRLQLRTLKQG
DKEIGPDGDSCAVCIELYKPNDLVRILTCNHIFHKTCVDPWLLEHRTCPMCKCDILKALGIEVDVEDGSVSLQVPVSSEI
SNSASSHEEDNRSETASSGYASVQGTDEPPLEEHVQSTNESLQLVNHEANSVAVDVIPHVDNPTFEEDETPNQETAVREI
KS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003432316 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RNF128 CLINVAR
OMIM 300439 CLINVAR