RGD:401761991 Rat Genome Database

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Variant: RGD:401761991 -  Homo sapiens

RGD ID: 401761991
ClinVar ID: CV2726992
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THTPA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 24,026,409
GRCh38 14 23,557,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256322.2:c.277+166C>G
NM_001256323.2:c.277+166C>G
NM_001256062.2:c.282+161C>G
NM_001256321.2:c.282+161C>G
More... 		06/02/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:THTPA
Accession:NM_001126339
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQGLIEVERKFLPGPGTEERLQELGGTLEYRVTFRDTYYDTPELSLMQADHWLRRREDSGWELKCPGAAGVLGPHTEYK
ELTAEPTIVAQLCKVLRADGLGAGDVAAVLGPLGLQEVASFVTKRSAWKLVLLGADEEEPQLRVDLDRADFGYAVGEVEA
LVHEEAEVPTALEKIHRLSSMLGVPAQETAPAKLIVYLQRFRPQDYQRLLEVNSSRERPQETEDPDHCLG*

Gene Symbol:THTPA
Accession:NM_024328
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQGLIEVERKFLPGPGTEERLQELGGTLEYRVTFRDTYYDTPELSLMQADHWLRRREDSGWELKCPGAAGVLGPHTEYK
ELTAEPTIVAQLCKVLRADGLGAGDVAAVLGPLGLQEVASFVTKRSAWKLVLLGADEEEPQLRVDLDRADFGYAVGEVEA
LVHEEAEVPTALEKIHRLSSMLGVPAQETAPAKLIVYLQRFRPQDYQRLLEVNSSRERPQETEDPDHCLG*

Gene Symbol:THTPA
Accession:NM_001256322
Location:INTRON

Gene Symbol:THTPA
Accession:NM_001256321
Location:INTRON

Gene Symbol:THTPA
Accession:NM_001256323
Location:INTRON

Gene Symbol:THTPA
Accession:NM_001256062
Location:INTRON

Gene Symbol:THTPA
Accession:NR_023314
Location:INTRON;NON-CODING

Gene Symbol:THTPA
Accession:NR_046052
Location:INTRON;NON-CODING

Gene Symbol:THTPA
Accession:NR_046051
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004325056 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene THTPA CLINVAR
OMIM 611612 CLINVAR