RGD:13515921 Rat Genome Database

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Variant: RGD:13515921 -  Homo sapiens

RGD ID: 13515921
RS ID: rs1553800649
ClinVar ID: CV493142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN1  CLDN16  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 190,030,670
GRCh38 3 190,312,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.190312881G>T
NP_066924.1:p.Leu127Ile
NG_021418.1:g.14566C>A
NC_000003.11:g.190030670G>T
More... 		05/02/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLDN16
Accession:NM_001378493
Location:5UTRS;INTRON

Gene Symbol:CLDN16
Accession:NM_001378492
Location:5UTRS;INTRON

Gene Symbol:CLDN1
Accession:NM_021101
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANAGLQLLGFILAFLGWIGAIVSTALPQWRIYSYAGDNIVTAQAMYEGLWMSCVSQSTGQIQCKVFDSLLNLSSTLQAT
RALMVVGILLGVIAIFVATVGMKCMKCLEDDEVQKMRMAVIGGAIFILAGLAILVATAWYGNRIVQEFYDPMTPVNARYE
FGQALFTGWAAASLCLLGGALLCCSCPRKTTSYPTPRPYPKPAPSSGKDYV*

Gene Symbol:CLDN16
Accession:XM_047447333
Location:INTRON

Gene Symbol:CLDN16
Accession:NM_006580
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000594883 CLINVAR
dbSNP (RS) rs1553800649 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CLDN1 CLINVAR
  CLDN16 CLINVAR
OMIM 603718 CLINVAR
  603959 CLINVAR