RGD:152100967 Rat Genome Database

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Variant: RGD:152100967 -  Homo sapiens

RGD ID: 152100967
RS ID: rs140738663
ClinVar ID: CV1648950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNASE2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 12,989,491
GRCh38 19 12,878,677
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375.3:c.504G>A
NC_000019.10:g.12878677C>T
NC_000019.9:g.12989491C>T
NP_001366.1:p.Ser168=
 12/06/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DNASE2
Accession:NM_001375
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIPLLLAALLCVPAGALTCYGDSGQPVDWFVVYKLPALRGSGEAAQRGLQYKYLDESSGGWRDGRALINSPEGAVGRSLQ
PLYRSNTSQLAFLLYNDQPPQPSKAQDSSMRGHTKGVLLLDHDGGFWLVHSVPNFPPPASSAAYSWPHSACTYGQTLLCV
SFPFAQFSKMGKQLTYTYPWVYNYQLEGIFAQEFPDLENVVKGHHVSQEPWNSSITLTSQAGAVFQSFAKFSKFGDDLYS
GWLAAALGTNLQVQFWHKTVGILPSNCSDIWQVLNVNQIAFPGPAGPSFNSTEDHSKWCVSPKGPWTCVGDMNRNQGEEQ
RGGGTLCAQLPALWKAFQPLVKNYQPCNGMARKPSRAYKI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002214001 CLINVAR
dbSNP (RS) rs140738663 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DNASE2 CLINVAR
OMIM 126350 CLINVAR