RGD:15164278 Rat Genome Database

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Variant: RGD:15164278 -  Homo sapiens

RGD ID: 15164278
RS ID: rs115939709
ClinVar ID: CV698786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPA4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 132,409,749
GRCh38 5 133,074,057
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002154.4:c.594A>C
NC_000005.10:g.133074057A>C
NC_000005.9:g.132409749A>C
NM_002154.3:c.594A>C
More...
04/10/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HSPA4
Accession:NM_002154
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVVGIDLGFQSCYVAVARAGGIETIANEYSDRCTPACISFGPKNRSIGAAAKSQVISNAKNTVQGFKRFHGRAFSDPFV
EAEKSNLAYDIVQLPTGLTGIKVTYMEEERNFTTEQVTAMLLSKLKETAESVLKKPVVDCVVSVPCFYTDAERRSVMDAT
QIAGLNCLRLMNETTAVALAYGIYKQDLPALEEKPRNVVFVDMGHSAYQVSVCAFNRGKLKVLATAFDTTLGGRKFDEVL
VNHFCEEFGKKYKLDIKSKIRALLRLSQECEKLKKLMSANASDLPLSIECFMNDVDVSGTMNRGKFLEMCNDLLARVEPP
LRSVLEQTKLKKEDIYAVEIVGGATRIPAVKEKISKFFGKELSTTLNADEAVTRGCALQCAILSPAFKVREFSITDVVPY
PISLRWNSPAEEGSSDCEVFSKNHAAPFSKVLTFYRKEPFTLEAYYSSPQDLPYPDPAIAQFSVQKVTPQSDGSSSKVKV
KVRVNVHGIFSVSSASLVEVHKSEENEEPMETDQNAKEEEKMQVDQEEPHVEEQQQQTPAENKAESEEMETSQAGSKDKK
MDQPPQAKKAKVKTSTVDLPIENQLLWQIDREMLNLYIENEGKMIMQDKLEKERNDAKNAVEEYVYEMRDKLSGEYEKFV
SEDDRNSFTLKLEDTENWLYEDGEDQPKQVYVDKLAELKNLGQPIKIRFQESEERPKLFEELGKQIQQYMKIISSFKNKE
DQYDHLDAADMTKVEKSTNEAMEWMNNKLNLQNKQSLTMDPVVKSKEIEAKIKELTSTCSPIISKPKPKVEPPKEEQKNA
EQNGPVDGQGDNPGPQAAEQGTDTAVPSDSDKKLPEMDID*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948301 CLINVAR
dbSNP (RS) rs115939709 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HSPA4 CLINVAR
OMIM 601113 CLINVAR