RGD:15180831 Rat Genome Database

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Variant: RGD:15180831 -  Homo sapiens

RGD ID: 15180831
RS ID: rs1586457101
ClinVar ID: CV736683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 42,694,497
GRCh38 8 42,839,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_199003.2:c.72-1018T>C
NM_018105.3:c.99T>C
NG_011837.1:g.8978T>C
NC_000008.11:g.42839354A>G
More... 		12/11/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:THAP1
Accession:NM_018105
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTI
FLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLR
KKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA*

Gene Symbol:THAP1
Accession:NM_199003
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000907447 CLINVAR
dbSNP (RS) rs1586457101 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene THAP1 CLINVAR
OMIM 609520 CLINVAR