RGD:41405110 Rat Genome Database

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Variant: RGD:41405110 -  Homo sapiens

RGD ID: 41405110
RS ID: rs1383048808
ClinVar ID: CV982269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN2  RIPPLY1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 106,144,744
GRCh38 X 106,901,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138382.3:c.256G>A
NG_016445.1:g.6351C>T
NG_022934.1:g.6818G>A
NC_000023.11:g.106901514C>T
More... 		03/03/2020 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLDN2
Accession:NM_001171092
Location:5UTRS;INTRON

Gene Symbol:RIPPLY1
Accession:NM_138382
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSAACAAAATPVPALALALAPDLAQAPLALPGLLSPSCLLSSGQEVNGSERGTCLWRPWLSSTNDSPRQMRKLVDLAAG
GATAA*VTKAESKFHHPVRLFWPKSRSFDYLYSAGEILLQNFPVQATINLYEDSDSEEEEEDEEQEDEEEK*

Gene Symbol:CLDN2
Accession:NM_020384
Location:INTRON

Gene Symbol:RIPPLY1
Accession:NM_001171706
Location:INTRON

Gene Symbol:CLDN2
Accession:NM_001171095
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001812401 CLINVAR
dbSNP (RS) rs1383048808 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLDN2 CLINVAR
  RIPPLY1 CLINVAR
OMIM 300520 CLINVAR
  300575 CLINVAR