RGD:11662036 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11662036 -  Homo sapiens

RGD ID: 11662036
ClinVar ID: CV345227
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAFAH1B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 2,585,483
GRCh38 17 2,682,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009799.1:g.93561T>C
NC_000017.11:g.2682189T>C
NC_000017.10:g.2585483T>C
NM_000430.4:c.*387T>C
More...
06/14/2016 3 prime utr variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:PAFAH1B1
Accession:XM_011523903
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_017024701
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_011523901
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_047436162
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:NM_000430
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_011523902
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_047436164
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_047436163
Location:3UTRS;EXON

Gene Symbol:PAFAH1B1
Accession:XM_017024703
Location:INTRON

Variant Samples