RGD:150467888 Rat Genome Database

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Variant: RGD:150467888 -  Homo sapiens

RGD ID: 150467888
RS ID: rs2288066
ClinVar ID: CV1240953
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC121587563  MAF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 79,634,579
GRCh38 16 79,600,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_074850.1:g.131A>C
NG_016440.1:g.5044T>G
NC_000016.10:g.79600682A>C
NC_000016.9:g.79634579A>C
More... 		07/07/2018 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MAF
Accession:NM_005360
Location:5UTRS;EXON

Gene Symbol:MAF
Accession:NM_001031804
Location:5UTRS;EXON

Gene Symbol:MAF
Accession:XM_017023234
Location:5UTRS;EXON

Gene Symbol:MAF
Accession:XM_017023235
Location:5UTRS;EXON

Gene Symbol:MAF
Accession:XM_017023233
Location:5UTRS;EXON

Gene Symbol:MAF
Accession:XM_024450279
Location:5UTRS;EXON

Gene Symbol:MAF
Accession:XR_001751902
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957804
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957803
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957802
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001650411 CLINVAR
dbSNP (RS) rs2288066 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC121587563 CLINVAR
  MAF CLINVAR
OMIM 177075 CLINVAR