RGD:401903684 Rat Genome Database

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Variant: RGD:401903684 -  Homo sapiens

RGD ID: 401903684
ClinVar ID: CV2816084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNIH3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 224,641,991
GRCh38 1 224,454,289
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.224641991T>C
NR_136291.2:n.351T>C
NR_136293.2:n.455T>C
NP_001309231.1:p.Ser37=
More... 		08/01/2022 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CNIH3
Accession:NM_001322304
Location:5UTRS;INTRON

Gene Symbol:CNIH3
Accession:NM_001322302
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWQSWRACVSPPVWHGHVRCAEGLHLLHQVQKISASSCPSTLSTNISFAKLGGLIIAFDELRTDFKSPIDQCNPVHARE
RLRNIERICFLLRKLVLPEYSIHSLFCIMFLCAQEWLTLGLNVPLLFYHFWRYFHCPADSSELAYDPPVVMNADTLSYCQ
KEAWCKLAFYLLSFFYYLYCMIYTLVSS*

Gene Symbol:CNIH3
Accession:NR_136293
Location:EXON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136291
Location:EXON;NON-CODING

Gene Symbol:CNIH3
Accession:NM_152495
Location:INTRON

Gene Symbol:CNIH3
Accession:NM_001322303
Location:INTRON

Gene Symbol:CNIH3
Accession:NM_001322305
Location:INTRON

Gene Symbol:CNIH3
Accession:NR_136289
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136290
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136288
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136294
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136296
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136292
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136295
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136297
Location:INTRON;NON-CODING

Gene Symbol:CNIH3
Accession:NR_136287
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003414810 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNIH3 CLINVAR
  WDR26 CLINVAR
OMIM 617424 CLINVAR