RGD:405667193 Rat Genome Database

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Variant: RGD:405667193 -  Homo sapiens

RGD ID: 405667193
ClinVar ID: CV3373564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2J  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 102,114,857
GRCh38 7 102,474,410
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001371100.1:c.179C>T
NM_001393919.1:c.269C>T
NM_006234.6:c.269C>T
NC_000007.14:g.102474410G>A
More... 		02/21/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:POLR2J
Accession:NM_006234
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNAPPAFESFLLFEGEKKITINKDTKVPNACLFTINKEDHTLGNIIKSQLLKDPQVLFAGYKVPHPLEHKIIIRVQTTPD
YSPQEAFTNVITDLISELSLLEERFRVAIKDKQEGIE*

Gene Symbol:POLR2J
Accession:XM_017012353
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNAPPAFESFLLFEGEKITINKDTKVPNACLFTINKEDHTLGNIIKSQLLKDPQVLFAGYKVPHPLEHKIIIRVQTTPDY
SPQEAFTNVITDLISELSLLEERFRVAIKDKQEGIE*

Gene Symbol:POLR2J
Accession:NM_001371100
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNAPPAFESFLLFEGEKKQLLKDPQVLFAGYKVPHPLEHKIIIRVQTTPDYSPQEAFTNVITDLISELSLLEERFRVAIK
DKQEGIE*

Gene Symbol:POLR2J
Accession:NM_001393919
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNAPPAFESFLLFEGEKKITINKDTKVPNACLFTINKEDHTLGNIIKSQLLKDPQVLFAGYKVPHPLEHKIIIRVQTTPD
YSPQEAFTNVITDLISELSLLEERFRVRAGPGGADGVGWTLARVPRPGTALACFFGGPGGEAAVMEEQGLPPQAPGHVD*

Gene Symbol:POLR2J
Accession:NR_163857
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004514403 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene POLR2J CLINVAR
OMIM 604150 CLINVAR