RGD:11599814 Rat Genome Database

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Variant: RGD:11599814 -  Homo sapiens

RGD ID: 11599814
RS ID: rs552453133
ClinVar ID: CV310501
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 16,128,229
GRCh38 7 16,088,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.16088604G>C
NC_000007.13:g.16128229G>C
NM_001101417.4:c.*3091C>G
NG_032690.2:g.337719C>G
More... 		01/13/2018 3 prime utr variant benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001101417
Location:3UTRS;EXON

Gene Symbol:CRPPA
Accession:NM_001101426
Location:3UTRS;EXON

Gene Symbol:CRPPA
Accession:NM_001368197
Location:3UTRS;EXON

Gene Symbol:CRPPA
Accession:NR_160656
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000268563 CLINVAR
dbSNP (RS) rs552453133 CLINVAR
MedGen CN239202 CLINVAR
NCBI Gene ISPD CLINVAR
OMIM 614631 CLINVAR