rs1043712563 Rat Genome Database

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Variant: rs1043712563 -  Homo sapiens

RGD ID: 152103519
RS ID: rs1043712563
ClinVar ID: CV1574631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIZ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 21,112,724
GRCh38 20 21,132,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018474.6:c.90-14G>A
NG_033122.2:g.11104G>A
NC_000020.11:g.21132083G>A
NC_000020.10:g.21112724G>A
More... 		01/19/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KIZ
Accession:NM_001163022
Location:5UTRS;INTRON

Gene Symbol:KIZ
Accession:NM_001163023
Location:5UTRS;INTRON

Gene Symbol:KIZ
Accession:XM_011529299
Location:5UTRS;INTRON

Gene Symbol:KIZ
Accession:NM_001352436
Location:5UTRS;INTRON

Gene Symbol:KIZ
Accession:NM_001352435
Location:5UTRS;INTRON

Gene Symbol:KIZ
Accession:NM_018474
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001276389
Location:INTRON

Gene Symbol:KIZ
Accession:XM_011529296
Location:INTRON

Gene Symbol:KIZ
Accession:XM_011529297
Location:INTRON

Gene Symbol:KIZ
Accession:NM_001352434
Location:INTRON

Gene Symbol:KIZ
Accession:XM_047440292
Location:INTRON

Gene Symbol:KIZ
Accession:XR_937105
Location:INTRON;NON-CODING

Gene Symbol:KIZ
Accession:XR_001754334
Location:INTRON;NON-CODING

Gene Symbol:KIZ
Accession:XR_007067468
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002095840 CLINVAR
dbSNP (RS) rs1043712563 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KIZ CLINVAR
OMIM 615757 CLINVAR