RGD:28890977 Rat Genome Database

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Variant: RGD:28890977 -  Homo sapiens

RGD ID: 28890977
RS ID: rs77255459
ClinVar ID: CV874017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC24A1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 65,948,563
GRCh38 15 65,656,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004727.2:c.*2146T>G
NM_001301031.1:c.*2146T>G
NM_001301032.1:c.*2146T>G
NM_001254740.2:c.*2146T>G
More... 		01/13/2018 3 prime utr variant uncertain significance Night blindness, congenital stationary (complete), 1D, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC24A1
Accession:NM_004727
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_011522221
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_024450103
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:NM_001254740
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_047433326
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_047433327
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_047433335
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:NM_001301032
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_024450104
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_011522219
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_024450105
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:NM_001301031
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XM_047433325
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:NM_001411142
Location:3UTRS;EXON

Gene Symbol:SLC24A1
Accession:XR_007064494
Location:EXON;NON-CODING

Gene Symbol:SLC24A1
Accession:NM_001301033
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433332
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433339
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_017022724
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433328
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_011522222
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433330
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433338
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433333
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_011522226
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433331
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433336
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_005254781
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_017022725
Location:INTRON

Gene Symbol:SLC24A1
Accession:XM_047433334
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001120801 CLINVAR
dbSNP (RS) rs77255459 CLINVAR
MedGen C3151193 CLINVAR
NCBI Gene SLC24A1 CLINVAR
OMIM 603617 CLINVAR
  613830 CLINVAR