RGD:13462487 Rat Genome Database

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Variant: RGD:13462487 -  Homo sapiens

RGD ID: 13462487
RS ID: rs146093871
ClinVar ID: CV198601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHD  RSRP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 25,633,210
GRCh38 1 25,306,719
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321772.2:c.-67+30321C>T
NM_016124.6:c.1063G>A
NG_007494.1:g.39230G>A
NM_001282868.1:c.939+3260G>A
More... 		09/30/2014 intron variant risk factor
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSRP1
Accession:NM_001321772
Location:5UTRS;INTRON

Gene Symbol:RHD
Accession:NM_001282872
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFN
LFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFN
TYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVL
GIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGASNGMSLGWNLAVKMAEAGDEELMRLDVSQRNHGGAAVPTGSWMPST
ETTIAPNYRDHISVGLASRSSSALGNSAWPS*

Gene Symbol:RHD
Accession:NM_001282871
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFN
LFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFN
TYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVL
GIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGASNGMSLGWNLAVKMAEAGDEELMRLDVSQRNHGGAAVPTGSWMPST
ETTIAPNYRDHISVVSSFGCWILSKSIQEKQGLFKNKTTSSHCCLHLYVRNAHDSKVSNVRAGTGVRENGVESFLCHSLR
RISPFIMHCRIQQ*

Gene Symbol:RHD
Accession:NM_001282870
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFN
LFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFN
TYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVL
GIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGASNGMIGFQVLLSIGELSLAIVIALMSGLLTVSSFGCWILSKSIQEK
QGLFKNKTTSSHCCLHLYVRNAHDSKVSNVRAGTGVRENGVESFLCHSLRRISPFIMHCRIQQ*

Gene Symbol:RHD
Accession:NM_001282869
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFN
LFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFN
TYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVL
GIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGASNGIFLIWLLDFKQKHPRKTRPVQKQDNFLSLLPAFVREKRS*

Gene Symbol:RHD
Accession:XM_017002015
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFN
LFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFN
TYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVL
GIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGASNGMSLGWNLAVKMAEAGDEELMRLDVSQRNHGGAAVPTGSWMPST
ETTIAPNYRDHISVGETSLLGMRRG*

Gene Symbol:RHD
Accession:NM_001282867
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVA
VSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSS
IMGYNFSLLGLLGEIIYIVLLVLDTVGASNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQV
FWKFPHLAVGF*

Gene Symbol:RHD
Accession:NM_016124
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFN
LFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNI
FNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFN
TYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVL
GIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGASNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAK
YFDDQVFWKFPHLAVGF*

Gene Symbol:RSRP1
Accession:NR_135791
Location:EXON;NON-CODING

Gene Symbol:RSRP1
Accession:NM_020317
Location:INTRON

Gene Symbol:RHD
Accession:NM_001127691
Location:INTRON

Gene Symbol:RHD
Accession:NM_001282868
Location:INTRON

Gene Symbol:RSRP1
Accession:NR_135788
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135777
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135143
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135792
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135783
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135785
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135781
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135780
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135790
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135778
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135789
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135144
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135782
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135784
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135793
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135787
Location:INTRON;NON-CODING

Gene Symbol:RSRP1
Accession:NR_135786
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28639307  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000515751 CLINVAR
  RCV000515752 CLINVAR
dbSNP (RS) rs146093871 CLINVAR
MedGen C0158962 CLINVAR
  C3698348 CLINVAR
NCBI Gene RHD CLINVAR
  RSRP1 CLINVAR
OMIM 111680 CLINVAR
  620030 CLINVAR