RGD:156315314 Rat Genome Database

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Variant: RGD:156315314 -  Homo sapiens

RGD ID: 156315314
ClinVar ID: CV2192884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNOC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 28,196,595
GRCh38 8 28,339,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001284244.2:c.-28C>A
NM_006228.5:c.165C>A
NC_000008.11:g.28339078C>A
NC_000008.10:g.28196595C>A
More... 		12/01/2022 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PNOC
Accession:NM_001284244
Location:5UTRS;EXON

Gene Symbol:PNOC
Accession:XM_005273532
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVLLCDLLLLSLFSSVFSSCQRDCLTCQEKLHPALDSFDLEVCILECEEKVFPRPLWTPCTKVMARSSWQLSPAAPEHV
AAALYQPRASEMQHLRRMPRVRSLFQEQEEPEPGMEEAGEMEQKQLQKRFGGFTGARKSARKLANQKRFSEFMRQYLVLS
MQSSQRRRTLHQNGVQVIPQTACAQPQTCRLGIRIPSSPRH*

Gene Symbol:PNOC
Accession:NM_006228
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVLLCDLLLLSLFSSVFSSCQRDCLTCQEKLHPALDSFDLEVCILECEEKVFPRPLWTPCTKVMARSSWQLSPAAPEHV
AAALYQPRASEMQHLRRMPRVRSLFQEQEEPEPGMEEAGEMEQKQLQKRFGGFTGARKSARKLANQKRFSEFMRQYLVLS
MQSSQRRRTLHQNGNV*

Gene Symbol:PNOC
Accession:XM_011544559
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVLLCDLLLLSLFSSVFSSCQRDCLTCQEKLHPALDSFDLEVCILECEEKVFPRPLWTPCTKVMARSSWQLSPAAPEHV
AAALYQPRASEMQHLRRMPRVRSLFQEQEEPEPGMEEAGEMEQKQLQKRFGGFTGARKSARKLANQKRFSEFMRQYLVLS
MQSSQRRRTLHQNGVQVIPQTACAQPQTCRLGIRIPSSPRH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004069451 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PNOC CLINVAR
OMIM 601459 CLINVAR