rs114551506 Rat Genome Database

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Variant: rs114551506 -  Homo sapiens

RGD ID: 11614400
RS ID: rs114551506
ClinVar ID: CV336750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN14  CLDN14-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 37,833,223
GRCh38 21 36,460,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011777.1:g.120645G>A
NC_000021.9:g.36460925C>T
NC_000021.8:g.37833223C>T
NM_001146078.3:c.*51G>A
More... 		07/17/2018 3 prime utr variant benign|likely benign Deafness, autosomal recessive 29; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLDN14
Accession:NM_012130
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:XM_047440736
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146077
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_144492
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146079
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:NM_001146078
Location:3UTRS;EXON

Gene Symbol:CLDN14
Accession:XM_047440735
Location:3UTRS;EXON

Gene Symbol:CLDN14-AS1
Accession:NR_183532
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183531
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183534
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183529
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183530
Location:INTRON;NON-CODING

Gene Symbol:CLDN14-AS1
Accession:NR_183533
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000276784 CLINVAR
  RCV001597106 CLINVAR
dbSNP (RS) rs114551506 CLINVAR
MedGen C3279660 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLDN14 CLINVAR
  CLDN14-AS1 CLINVAR
OMIM 605608 CLINVAR
  614035 CLINVAR