RGD:152086633 Rat Genome Database

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Variant: RGD:152086633 -  Homo sapiens

RGD ID: 152086633
RS ID: rs1239752360
ClinVar ID: CV1578150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHH  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 155,604,805
GRCh38 7 155,812,111
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000193.4:c.12G>T
NG_007504.2:g.5163G>T
NC_000007.14:g.155812111C>A
NC_000007.13:g.155604805C>A
More... 		10/27/2021 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SHH
Accession:NM_000193
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNSERFKELTPNY
NPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGM
LARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLT
FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAE
RDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGD
SGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_011516479
Location:INTRON

Gene Symbol:SHH
Accession:XM_047420718
Location:INTRON

Gene Symbol:SHH
Accession:XM_011516480
Location:INTRON

Gene Symbol:SHH
Accession:NM_001310462
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002171254 CLINVAR
dbSNP (RS) rs1239752360 CLINVAR
MedGen C1840529 CLINVAR
NCBI Gene SHH CLINVAR
OMIM 142945 CLINVAR
  600725 CLINVAR