RGD:15099678 Rat Genome Database

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Variant: RGD:15099678 -  Homo sapiens

RGD ID: 15099678
RS ID: rs143566182
ClinVar ID: CV758236
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HTR2C  LOC105373313  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 113,965,791
GRCh38 X 114,731,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256760.3:c.124G>C
NC_000023.11:g.114731382G>C
NC_000023.10:g.113965791G>C
NP_000859.1:p.Asp42His
More... 		10/10/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HTR2C
Accession:NM_001256760
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNLRNAVHSFLVHLIGLLVWQSDISVSPVAAIVTDIFNTSHGGRFKFPDGVQNWPALSIVIIIIMTIGGNILVIMAVSM
EKKLHNATNYFLMSLAIADMLVGLLVMPLSLLAILYDYVWPLPRYLCPVWISLDVLFSTASIMHLCAISLDRYVAIRNPI
EHSRFNSRTKAIMKIAIVWAISIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYV
LRRQALMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVF
LIMWCPFFITNILSVLCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPR
VAATALSGRELNVNIYRHTNEPVIEKASDNEPGIEMQVENLELPVNPSSVVSERISSV*

Gene Symbol:HTR2C
Accession:NM_001256761
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNLRNAVHSFLVHLIGLLVWQSDISVSPVAAIVTDIFNTSHGGRFKFPDGVQNWPALSIVIIIIMTIGGNILVIMAVSM
EKKLHNATNYFLMSLAIADMLVGLLVMPLSLLAILYDYVWPLPRYLCPVWISLDVLFSTASIMHLCAISLDRCISSYPCD
WTEGRRKGVREQHDVRAQRPKFRSYWVLRSFLHTADDYGDYVLPDHLRSAPTSFDVTARPHRGTAWTKSGFPEVLQEEYG
RGRELCKP*

Gene Symbol:HTR2C
Accession:NM_000868
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNLRNAVHSFLVHLIGLLVWQSDISVSPVAAIVTDIFNTSHGGRFKFPDGVQNWPALSIVIIIIMTIGGNILVIMAVSM
EKKLHNATNYFLMSLAIADMLVGLLVMPLSLLAILYDYVWPLPRYLCPVWISLDVLFSTASIMHLCAISLDRYVAIRNPI
EHSRFNSRTKAIMKIAIVWAISIGVSVPIPVIGLRDEEKVFVNNTTCVLNDPNFVLIGSFVAFFIPLTIMVITYCLTIYV
LRRQALMLLHGHTEEPPGLSLDFLKCCKRNTAEEENSANPNQDQNARRRKKKERRPRGTMQAINNERKASKVLGIVFFVF
LIMWCPFFITNILSVLCEKSCNQKLMEKLLNVFVWIGYVCSGINPLVYTLFNKIYRRAFSNYLRCNYKVEKKPPVRQIPR
VAATALSGRELNVNIYRHTNEPVIEKASDNEPGIEMQVENLELPVNPSSVVSERISSV*

Gene Symbol:LOC105373313
Accession:XR_001755943
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000914492 CLINVAR
  RCV003913049 CLINVAR
dbSNP (RS) rs143566182 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HTR2C CLINVAR
OMIM 312861 CLINVAR