RGD:15184403 Rat Genome Database

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Variant: RGD:15184403 -  Homo sapiens

RGD ID: 15184403
RS ID: rs193026789
ClinVar ID: CV740812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,429,415
GRCh38 17 44,352,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002087.3:c.1212C>T
NP_002078.1:p.Cys404=
NM_002087.4:c.1212C>T
NP_002078.1:p.Cys404=
More... 		07/06/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GRN
Accession:NM_002087
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 404
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGT
SSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCED
RVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
SDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIH
CCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDH
QHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCP
AGFRCAARGTKCLRREAPRWDAPLRDPALRQLL*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 404
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGT
SSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCED
RVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
SDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIH
CCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDH
QHCCPQGYTCVAEGQCQRGSEIVAGLEKMPARRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCP
AGFRCAARGTKCLRREAPRWDAPLRDPALRQLL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000908271 CLINVAR
dbSNP (RS) rs193026789 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GRN CLINVAR
OMIM 138945 CLINVAR