RGD:401729453 Rat Genome Database

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Variant: RGD:401729453 -  Homo sapiens

RGD ID: 401729453
ClinVar ID: CV2690240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSG11-AS1  PSG5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 43,679,537
GRCh38 19 43,175,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130014.2:c.794C>G
NM_002781.4:c.794C>G
NC_000019.10:g.43175385G>C
NC_000019.9:g.43679537G>C
More... 		04/19/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PSG5
Accession:NM_002781
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLSAPPCTQHITWKGLLLTASLLNFWNLPITAQVTIEALPPKVSEGKDVLLLVHNLPQNLAGYIWYKGQLMDLYHYIT
SYVVDGQINIYGPAYTGRETVYSNASLLIQNVTREDAGSYTLHIIKRGDRTRGVTGYFTFNLYLKLPKPYITINNSKPRE
NKDVLAFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYECEIRDRDGGMRSDPVTLNVLYGPD
LPSIYPSFTYYRSGENLYLSCFAESNPPAEYFWTINGKFQQSGQKLSIPQITTKHRGLYTCSVRNSATGKESSKSMTVEV
SAPSGIGRLPLLNPI*

Gene Symbol:PSG5
Accession:NM_001130014
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLSAPPCTQHITWKGLLLTASLLNFWNLPITAQVTIEALPPKVSEGKDVLLLVHNLPQNLAGYIWYKGQLMDLYHYIT
SYVVDGQINIYGPAYTGRETVYSNASLLIQNVTREDAGSYTLHIIKRGDRTRGVTGYFTFNLYLKLPKPYITINNSKPRE
NKDVLAFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYECEIRDRDGGMRSDPVTLNVLYGPD
LPSIYPSFTYYRSGENLYLSCFAESNPPAEYFWTINGKFQQSGQKLSIPQITTKHRGLYTCSVRNSATGKESSKSMTVEV
SAPSGIGRLPLLNPI*

Gene Symbol:PSG5
Accession:XM_017027003
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLSAPPCTQHITWKGLLLTASLLNFWNLPITAQVTIEALPPKVSEGKDVLLLVHNLPQNLAGYIWYKGQLMDLYHYIT
SYVVDGQINIYGPAYTGRETVYSNASLLIQNVTREDAGSYTLHIIKRGDRTRGVTGYFTFNLYLKLPKPYITINNSKPRE
NKDVLAFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYECEIRDRDGGMRSDPVTLNVLYGPD
LPSIYPSFTYYRSGENLYLSCFAESNPPAEYFWTINGKFQQSGQKLSIPQITTKHRGLYTCSVRNSATGKESSKSMTVEV
SAPSGIGRLPLLNPI*

Gene Symbol:PSG5
Accession:XM_011527132
Location:INTRON

Gene Symbol:LOC107985349
Accession:XR_007067262
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_001754099
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_001754100
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004302245 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PSG11-AS1 CLINVAR
  PSG5 CLINVAR
OMIM 176394 CLINVAR