RGD:150547910 Rat Genome Database

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Variant: RGD:150547910 -  Homo sapiens

RGD ID: 150547910
RS ID: rs145192358
ClinVar ID: CV1303867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,920,515
GRCh38 2 219,055,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002181.4:c.650G>A
NG_016741.1:g.9724G>A
NC_000002.12:g.219055793C>T
NC_000002.11:g.219920515C>T
More... 		10/02/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IHH
Accession:NM_002181
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKE
LTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDR
NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGAHVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAV
STHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGS
FHPLGMSGAGS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001763970 CLINVAR
dbSNP (RS) rs145192358 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 600726 CLINVAR