RGD:13211973 Rat Genome Database

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Variant: RGD:13211973 -  Homo sapiens

RGD ID: 13211973
RS ID: rs769463654
ClinVar ID: CV425648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RASA1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 86,564,675
GRCh38 5 87,268,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011650.1:g.5525C>A
NC_000005.10:g.87268858C>A
NC_000005.9:g.86564675C>A
NP_002881.1:p.Pro136His
More... 		06/15/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RASA1
Accession:NM_002890
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGTLGGGAALGSEFLGAGSVAGA
LGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLPTSLLAETLGPGGGFPHLPPPPYLPPLGAGLGTVDEGDSLD
GPEYEEEEVAIPLTAPPTNQWYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCGDYY
IGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEISFLKGDMFIVHNELEDGWMWV
TNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKISKQEAYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFK
ICPTPNNQFMMGGRYYNSIGDIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVKKGY
LLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGRPNCFQIVVQHFSEEHYIFYFAGE
TPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLVLHIEEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSE
EFVFDDLPPDINRFEITLSNKTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKIMPE
EEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDREISMEDEATTLFRATTLASTLMEQ
YMKATATQFVHHALKDSILKIMESKQSCELSPSKLEKNEDVNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKS
VQHKWPTNTTMRTRVVSGFVFLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVNPFI
KSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQHVLKKLLAITELLQQKQNQY
TKTNDVR*

Gene Symbol:RASA1
Accession:NM_022650
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000498168 CLINVAR
dbSNP (RS) rs769463654 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RASA1 CLINVAR
OMIM 139150 CLINVAR