RGD:15148223 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15148223 -  Homo sapiens

RGD ID: 15148223
RS ID: rs374289916
ClinVar ID: CV747305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IHH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 219,920,499
GRCh38 2 219,055,777
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002181.3:c.666C>T
NP_002172.2:p.Ala222=
NM_002181.4:c.666C>T
NG_016741.1:g.9740C>T
More...
03/30/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IHH
Accession:NM_002181
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKE
LTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDR
NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAV
STHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGS
FHPLGMSGAGS*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923056 CLINVAR
dbSNP (RS) rs374289916 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IHH CLINVAR
OMIM 600726 CLINVAR