RGD:12848706 Rat Genome Database

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Variant: RGD:12848706 -  Homo sapiens

RGD ID: 12848706
RS ID: rs1057524917
ClinVar ID: CV380291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KREMEN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 29,521,399
GRCh38 22 29,125,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.29125411T>C
NC_000022.10:g.29521399T>C
NP_114434.3:p.Phe209Ser
NG_052986.1:g.57334T>C
More... 		03/13/2017 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KREMEN1
Accession:NM_001039570
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPAARLALLSAAALTLAARPAPSPGLGPGPECFTANGADYRGTQNWTALQGGKPCLFWNETFQHPYNTLKYPNGEGGL
GEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPACQMPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKF
AGMESGYACFCGNNPDYWKYGEAASTECNSVCFGDHTQPCGGDGRIILSDTLVGACGGNYSAMSSVVYSPDFPDTYATGR
VCYWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLY
QAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVITTSPSHPPQTVPGWTVYGLATLLILTVTAIVAKILLHV
TFKSHRVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD*

Gene Symbol:KREMEN1
Accession:XM_011530429
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPAARLALLSAAALTLAARPAPSPGLGPGPECFTANGADYRGTQNWTALQGGKPCLFWNETFQHPYNTLKYPNGEGGL
GEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPACQMPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKF
AGMESGYACFCGNNPDYWKYGEAASTECNSVCFGDHTQPCGGDGRIILSDTLVGACGGNYSAMSSVVYSPDFPDTYATGR
VCYWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLY
QAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVITTSPSHPPQTVPGSNSWAPPMGAGSHRVEGWTVYGLAT
LLILTVTAIVAKILLHVTFKSHRVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD*

Gene Symbol:KREMEN1
Accession:XM_011530431
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQNLLLKEQLGVPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKFAGMESGYACFCGNNPDYWKYGEAAS
TECNSVCFGDHTQPCGGDGRIILSDTLVGACGGNYSAMSSVVYSPDFPDTYATGRVCYWTIRVPGASHIHFSFPLFDIRD
SADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLYQAVKEELPQERPAVNQTVAEVITEQ
ANLSVSAARSSKVLYVITTSPSHPPQTVPGSNSWAPPMGAGSHRVEGWTVYGLATLLILTVTAIVAKILLHVTFKSHRVP
ASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLVSD*

Gene Symbol:KREMEN1
Accession:NM_032045
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPAARLALLSAAALTLAARPAPSPGLGPGPECFTANGADYRGTQNWTALQGGKPCLFWNETFQHPYNTLKYPNGEGGL
GEHNYCRNPDGDVSPWCYVAEHEDGVYWKYCEIPACQMPGNLGCYKDHGNPPPLTGTSKTSNKLTIQTCISFCRSQRFKF
AGMESGYACFCGNNPDYWKYGEAASTECNSVCFGDHTQPCGGDGRIILSDTLVGACGGNYSAMSSVVYSPDFPDTYATGR
VCYWTIRVPGASHIHFSFPLFDIRDSADMVELLDGYTHRVLARFHGRSRPPLSFNVSLDFVILYFFSDRINQAQGFAVLY
QAVKEELPQERPAVNQTVAEVITEQANLSVSAARSSKVLYVITTSPSHPPQTVPGSNSWAPPMGAGSHRVEGWTVYGLAT
LLILTVTAIVAKILLHVTFKSHRVPASGDLRDCHQPGTSGEIWSIFYKPSTSISIFKKKLKGQSQQDDRNPLAIQDSEVT
SLIWSQGQPRSI*

Gene Symbol:KREMEN1
Accession:XM_017028989
Location:INTRON

Gene Symbol:KREMEN1
Accession:XM_011530430
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27049303  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000445554 CLINVAR
dbSNP (RS) rs1057524917 CLINVAR
MedGen C4479322 CLINVAR
NCBI Gene KREMEN1 CLINVAR
OMIM 609898 CLINVAR
  617392 CLINVAR
OMIM Allele 609898.0001 CLINVAR