RGD:15165291 Rat Genome Database

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Variant: RGD:15165291 -  Homo sapiens

RGD ID: 15165291
RS ID: rs61752461
ClinVar ID: CV695982
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHIA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 111,854,859
GRCh38 1 111,312,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258005.2:c.-200+519C>T
NM_001258004.2:c.-366+519C>T
NM_001258002.2:c.-60-2303C>T
NM_001040623.3:c.-61+519C>T
More... 		06/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHIA
Accession:NM_021797
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_001258004
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_001258003
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_001258001
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_001040623
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_001258005
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_001258002
Location:5UTRS;INTRON

Gene Symbol:CHIA
Accession:NM_201653
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKLILLTGLVLILNLQLGSAYQLTCYFTNWAQYWPGLGRFMPDNIDPCLCTHLIYAFAGRQNNEITTIEWNDVTLYQAF
NGLKNKNSQLKTLLAIGGWNFGTAPFTAMVSTPENRQTFITSVIKFLRQYEFDGLDFDWEYPGSRGSPPQDKHLFTVLVQ
EMREAFEQEAKQINKPRLMVTAAVAAGISNIQSGYEIPQLSQYLDYIHVMTYDLHGSWEGYTGENSPLYKYPTDTGSNAY
LNVDYVMNYWKDNGAPAEKLIVGFPTYGHNFILSNPSNTGIGAPTSGAGPAGPYAKESGIWAYYEICTFLKNGATQGWDA
PQEVPYAYQGNVWVGYDNIKSFDIKAQWLKHNKFGGAMVWAIDLDDFTGTFCNQGKFPLISTLKKALGLQSASCTAPAQP
IEPITAAPSGSGNGSGSSSSGGSSGGSGFCAVRANGLYPVANNRNAFWHCVNGVTYQQNCQAGLVFDTSCDCCNWA*

Gene Symbol:CHIA
Accession:XM_017001047
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000948553 CLINVAR
dbSNP (RS) rs61752461 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHIA CLINVAR
OMIM 606080 CLINVAR