RGD:156185824 Rat Genome Database

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Variant: RGD:156185824 -  Homo sapiens

RGD ID: 156185824
ClinVar ID: CV2332424
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375716  SLC30A8  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 118,159,253
GRCh38 8 117,147,014
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172814.2:c.-16G>T
NM_001172815.3:c.-16G>T
NM_173851.3:c.132G>T
NG_016991.1:g.201742G>T
More... 		01/26/2022 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC30A8
Accession:NM_001172811
Location:5UTRS;EXON

Gene Symbol:SLC30A8
Accession:NM_001172813
Location:5UTRS;EXON

Gene Symbol:SLC30A8
Accession:NM_001172815
Location:5UTRS;EXON

Gene Symbol:SLC30A8
Accession:NM_001172814
Location:5UTRS;EXON

Gene Symbol:SLC30A8
Accession:XM_024447083
Location:5UTRS;EXON

Gene Symbol:SLC30A8
Accession:NM_173851
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLERTYLVNDKAAKMYAFTLESVELQQKPVNKDQCPRERPEDLESGGMYHCHSGSKPTEKGANEYAYAKWKLCSASAI
CFIFMIAEVVGGHIAGSLAVVTDAAHLLIDLTSFLLSLFSLWLSSKPPSKRLTFGWHRAEILGALLSILCIWVVTGVLVY
LACERLLYPDYQIQATVMIIVSSCAVAANIVLTVVLHQRCLGHNHKEVQANASVRAAFVHALGDLFQSISVLISALIIYF
KPEYKIADPICTFIFSILVLASTITILKDFSILLMEGVPKSLNYSGVKELILAVDGVLSVHSLHIWSLTMNQVILSAHVA
TAASRDSQVVRREIAKALSKSFTMHSLTIQMESPVDQDPDCLFCEDPCD*

Gene Symbol:LOC105375716
Accession:XR_928569
Location:INTRON;NON-CODING

Gene Symbol:LOC105375716
Accession:XR_928570
Location:INTRON;NON-CODING

Gene Symbol:LOC105375716
Accession:XR_928568
Location:INTRON;NON-CODING

Gene Symbol:LOC105375716
Accession:XR_928572
Location:INTRON;NON-CODING

Gene Symbol:LOC105375716
Accession:XR_928571
Location:INTRON;NON-CODING

Gene Symbol:LOC105375716
Accession:XR_007061067
Location:INTRON;NON-CODING

Gene Symbol:LOC105375716
Accession:XR_007061068
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002956676 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SLC30A8 CLINVAR
OMIM 611145 CLINVAR