RGD:329382109 Rat Genome Database

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Variant: RGD:329382109 -  Homo sapiens

RGD ID: 329382109
ClinVar ID: CV2424333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AC002116.2  THAP8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 36,530,245
GRCh38 19 36,039,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001331103.2:c.523C>T
NM_001331104.1:c.523C>T
NM_001331102.2:c.549+103C>T
NM_152658.3:c.652C>T
More... 		02/28/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:THAP8
Accession:NM_001331104
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCEHWVPSCHQHLCSEHFTPSCFQWRWGVRYLRPDAVPSIFSRGPPAKSQRRTRSTQKPVSPPPPLQKNTPLPQSPAIP
VSGPVRLVVLGPTSGSPKTVATMLLTPLAPAPTPERSQPEVPAQQAQTGLGPVLGALQRRVRRLQRCQERHQAQLQALER
LAQQLHGESLLARASRGLQRLTTAQTLGPEESQTFTIICGGPDIAMVLAQDPAPATVDAKPELLDTRIPSA*

Gene Symbol:THAP8
Accession:NM_152658
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKYCRAPNCSNTAGRLGADNRPVSFYKFPLKDGPRLQAWLQHMGCEHWVPSCHQHLCSEHFTPSCFQWRWGVRYLRPDA
VPSIFSRGPPAKSQRRTRSTQKPVSPPPPLQKNTPLPQSPAIPVSGPVRLVVLGPTSGSPKTVATMLLTPLAPAPTPERS
QPEVPAQQAQTGLGPVLGALQRRVRRLQRCQERHQAQLQALERLAQQLHGESLLARASRGLQRLTTAQTLGPEESQTFTI
ICGGPDIAMVLAQDPAPATVDAKPELLDTRIPSA*

Gene Symbol:THAP8
Accession:NM_001331103
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCEHWVPSCHQHLCSEHFTPSCFQWRWGVRYLRPDAVPSIFSRGPPAKSQRRTRSTQKPVSPPPPLQKNTPLPQSPAIP
VSGPVRLVVLGPTSGSPKTVATMLLTPLAPAPTPERSQPEVPAQQAQTGLGPVLGALQRRVRRLQRCQERHQAQLQALER
LAQQLHGESLLARASRGLQRLTTAQTLGPEESQTFTIICGGPDIAMVLAQDPAPATVDAKPELLDTRIPSA*

Gene Symbol:THAP8
Accession:NR_138539
Location:EXON;NON-CODING

Gene Symbol:THAP8
Accession:NM_001331102
Location:INTRON

Gene Symbol:AC002116.2
Accession:NR_170987
Location:INTRON;NON-CODING

Gene Symbol:AC002116.2
Accession:NR_170988
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003188339 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AC002116.2 CLINVAR
  THAP8 CLINVAR
OMIM 612536 CLINVAR