rs191706712 Rat Genome Database

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Variant: rs191706712 -  Homo sapiens

RGD ID: 15108366
RS ID: rs191706712
ClinVar ID: CV758438
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDX53  PTCHD1-AS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 23,019,881
GRCh38 X 23,001,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182699.4:c.1707C>T
NC_000023.10:g.23019881C>T
NM_182699.3:c.1707C>T
NP_874358.2:p.Thr569=
More... 		07/02/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DDX53
Accession:NM_182699
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 569
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHWAPEWKRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMVGVVIGYSGSKIKDLQHSTNT
KIQIINGESEAKVRIFGNREMKAKAKAAIETLIRKQESYNSESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAV
VECEKRKWADLPPVKKNFYIESKATSCMSEMQVINWRKENFNITCDDLKSGEKRLIPKPTCRFKDAFQQYPDLLKSIIRV
GIVKPTPIQSQAWPIILQGIDLIVVAQTGTGKTLSYLMPGFIHLDSQPISREQRNGPGMLVLTPTRELALHVEAECSKYS
YKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQMNNSVNLRSITYLVIDEADKMLDMEFEPQIRKILLDVRPD
RQTVMTSATWPDTVRQLALSYLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIA
DDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTDIVSRGLDLNDVTHVYNYDFPRNIDVYVHRVGYIGR
TGKTGTSVTLITQRDSKMAGELIKILDRANQSVPEDLVVMAEQYKLNQQKRHRETRSRKPGQRRKEFYFLS*

Gene Symbol:PTCHD1-AS
Accession:NR_073010
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000916129 CLINVAR
dbSNP (RS) rs191706712 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DDX53 CLINVAR
  PTCHD1-AS CLINVAR
OMIM 301079 CLINVAR