RGD:15141703 Rat Genome Database

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Variant: RGD:15141703 -  Homo sapiens

RGD ID: 15141703
RS ID: rs61749631
ClinVar ID: CV709623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 132,437,499
GRCh38 5 133,101,807
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.2086C>T
NC_000005.9:g.132437499C>T
NP_002145.3:p.Pro696Ser
NM_002154.3:c.2086C>T
More...
02/14/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HSPA4
Accession:NM_002154
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 696
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVVGIDLGFQSCYVAVARAGGIETIANEYSDRCTPACISFGPKNRSIGAAAKSQVISNAKNTVQGFKRFHGRAFSDPFV
EAEKSNLAYDIVQLPTGLTGIKVTYMEEERNFTTEQVTAMLLSKLKETAESVLKKPVVDCVVSVPCFYTDAERRSVMDAT
QIAGLNCLRLMNETTAVALAYGIYKQDLPALEEKPRNVVFVDMGHSAYQVSVCAFNRGKLKVLATAFDTTLGGRKFDEVL
VNHFCEEFGKKYKLDIKSKIRALLRLSQECEKLKKLMSANASDLPLSIECFMNDVDVSGTMNRGKFLEMCNDLLARVEPP
LRSVLEQTKLKKEDIYAVEIVGGATRIPAVKEKISKFFGKELSTTLNADEAVTRGCALQCAILSPAFKVREFSITDVVPY
PISLRWNSPAEEGSSDCEVFSKNHAAPFSKVLTFYRKEPFTLEAYYSSPQDLPYPDPAIAQFSVQKVTPQSDGSSSKVKV
KVRVNVHGIFSVSSASLVEVHKSEENEEPMETDQNAKEEEKMQVDQEEPHVEEQQQQTPAENKAESEEMETSQAGSKDKK
MDQPPQAKKAKVKTSTVDLPIENQLLWQIDREMLNLYIENEGKMIMQDKLEKERNDAKNAVEEYVYEMRDKLSGEYEKFV
SEDDRNSFTLKLEDTENWLYEDGEDQPKQVYVDKLAELKNLGQPIKIRFQESEERSKLFEELGKQIQQYMKIISSFKNKE
DQYDHLDAADMTKVEKSTNEAMEWMNNKLNLQNKQSLTMDPVVKSKEIEAKIKELTSTCSPIISKPKPKVEPPKEEQKNA
EQNGPVDGQGDNPGPQAAEQGTDTAVPSDSDKKLPEMDID*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000966348 CLINVAR
dbSNP (RS) rs61749631 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HSPA4 CLINVAR
OMIM 601113 CLINVAR