RGD:40903538 Rat Genome Database

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Variant: RGD:40903538 -  Homo sapiens

RGD ID: 40903538
RS ID: rs1803533139
ClinVar ID: CV977228
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHH  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 155,604,696
GRCh38 7 155,812,002
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.155812002G>C
NC_000007.13:g.155604696G>C
NM_000193.3:c.121C>G
NP_000184.1:p.Pro41Ala
More... 		07/24/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SHH
Accession:NM_000193
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTALAYKQFIPNVAEKTLGASGRYEGKISRNSERFKELTPNY
NPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGM
LARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLT
FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAE
RDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGD
SGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_011516479
Location:INTRON

Gene Symbol:SHH
Accession:NM_001310462
Location:INTRON

Gene Symbol:SHH
Accession:XM_047420718
Location:INTRON

Gene Symbol:SHH
Accession:XM_011516480
Location:INTRON

Gene Symbol:SHH
Accession:NR_132319
Location:INTRON;NON-CODING

Gene Symbol:SHH
Accession:NR_132318
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:19561609  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001270847 CLINVAR
dbSNP (RS) rs1803533139 CLINVAR
MedGen C1840529 CLINVAR
NCBI Gene SHH CLINVAR
OMIM 142945 CLINVAR
  600725 CLINVAR