RGD:28867437 Rat Genome Database

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Variant: RGD:28867437 -  Homo sapiens

RGD ID: 28867437
RS ID: rs374945016
ClinVar ID: CV898031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPER  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 34,006,162
GRCh38 7 33,966,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.34006162C>T
NM_133468.4:c.391C>T
NP_001352237.1:p.Arg131Cys
LRG_1276t1:c.391C>T
More... 		01/13/2018 missense variant uncertain significance none provided; VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPER
Accession:NM_133468
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIPFITDNPCIMCVCLNKEVTCK
REKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFKWQSPAEPCVLCQCQEGVVTESGVRCVVHCKNPLEHLGMCC
PTCPGCVFEGVQYQEGEEFQPEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCLGQRKVFDLPFGSCLF
RSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKVCKFGNKIFQDGEMWSSINCT
ICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTEKPGVCTVFGDPHYNTFDGRTFNFQGTCQYVLTKDCSSPASP
FQVLVKNDARRTRSFSWTKSVELVLGESRVSLQQHLTVRWNGSRIALPCRAPHFHIDLDGYLLKVTTKAGLEISWDGDSF
VEVMAAPHLKGKLCGLCGNYNGHKRDDLIGGDGNFKFDVDDFAESWRVESNEFCNRPQRKPVPELCQGTVKVKLRAHREC
QKLKSWEFQTCHSTVDYATFYRSCVTDMCECPVHKNCYCESFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGP
GCIKTCDNWNEIGPCNKPCVAGCHCPANLVLHKGRCIKPVLCPQR*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIPFITDNPCIMCVCLNKEVTCK
REKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFKWQSPAEPCVLCQCQEGVVTESGVRCVVHCKNPLEHLGMCC
PTCPGCVFEGVQYQEGEEFQPEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCLGQRKVFDLPFGSCLF
RSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKVCKFGNKIFQDGEMWSSINCT
ICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTESLEISWDGDSFVEVMAAPHLKGKLCGLCGNYNGHKRDDLIG
GDGNFKFDVDDFAESWRVESNEFCNRPQRKPVPELCQGTVKVKLRAHRECQKLKSWEFQTCHSTVDYATFYRSCVTDMCE
CPVHKNCYCESFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGPGCIKTCDNWNEIGPCNKPCVAGCHCPANLV
LHKGRCIKPVLCPQR*

Gene Symbol:BMPER
Accession:NM_001410872
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIPFITDNPCIMCVCLNKEVTCK
REKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFKWQSPAEPCVLCQCQEGVVTESGVRCVVHCKNPLEHLGMCC
PTCPGCVFEGVQYQEGEEFQPEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCLGQRKVFDLPFGSCLF
RSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKVCKFGNKIFQDGEMWSSINCT
ICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTESLEISWDGDSFVEVMAAPHLKGKLCGLCGNYNGHKRDDLIG
GDGNFKFDVDDFAESWRVESNEFCNRPQRKPVPELCQGTVKVKLRAHRECQKLKSWEFQTCHSTVDYATFYRSCVTDMCE
CPVHKNCYCESFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGPGCIKTCDNWNEIGPCNKPCVAGCHCPANLV
LHKGRCIKPVLCPQR*

Gene Symbol:BMPER
Accession:NM_001365308
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWFSGVGALAERYCRRSPGITCCVLLLLNCSGVPMSLASSFLTGSVAKCENEGEVLQIPFITDNPCIMCVCLNKEVTCK
REKCPVLSRDCALAIKQRGACCEQCKGCTYEGNTYNSSFKWQSPAEPCVLCQCQEGVVTESGVRCVVHCKNPLEHLGMCC
PTCPGCVFEGVQYQEGEEFQPEGSKCTKCSCTGGRTQCVREVCPILSCPQHLSHIPPGQCCPKCLGQRKVFDLPFGSCLF
RSDVYDNGSSFLYDNCTACTCRDSTVVCKRKCSHPGGCDQGQEGCCEECLLRVPPEDIKVCKFGNKIFQDGEMWSSINCT
ICACVKGRTECRNKQCIPISSCPQGKILNRKGCCPICTEKPGVCTVFGDPHYNTFDGRTFNFQGTCQYVLTKDCSSPASP
FQVLVKNDARRTRSFSWTKSVELVLGESRVSLQQHLTVRWNGSRIALPCRAPHFHIDLDGYLLKVTTKAGLEISWDGDSF
VEVMAAPHLKGKLCGLCGNYNGHKRDDLIGGDGNFKFDVDDFAESWRVESNEFCNRPQRKPVPELCQGTVKVKLRAHREC
QKLKSWEFQTCHSTVDYATFYRSCVTDMCECPVHKNCYCESFLAYTRACQREGIKVHWEPQQNCAATQCKHGAVYDTCGP
GCIKTCDNWNEIGPCNKPCVAGCHCPANLVLHKGRCIKPVLCPQR*

Gene Symbol:BMPER
Accession:XM_047419939
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001161885 CLINVAR
  RCV002558543 CLINVAR
dbSNP (RS) rs374945016 CLINVAR
MedGen C1842691 CLINVAR
  CN517202 CLINVAR
NCBI Gene BMPER CLINVAR
OMIM 608022 CLINVAR
  608699 CLINVAR