RGD:127296127 Rat Genome Database

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Variant: RGD:127296127 -  Homo sapiens

RGD ID: 127296127
RS ID: rs2037418959
ClinVar ID: CV1144870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT43  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 76,543,021
GRCh38 14 76,076,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.8:g.76543021A>G
NM_001102564.3:c.296-5617A>G
NM_052873.3:c.297A>G
NG_031957.1:g.95926A>G
More... 		05/27/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IFT43
Accession:NM_052873
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASNGTQTGKQQ
LDLNACYHKTHHRDLGLASLEEADIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLK
LLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT*

Gene Symbol:IFT43
Accession:NM_001102564
Location:INTRON

Gene Symbol:IFT43
Accession:NM_001255995
Location:INTRON

Gene Symbol:IFT43
Accession:NR_045664
Location:INTRON;NON-CODING

Gene Symbol:IFT43
Accession:NR_045665
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001497406 CLINVAR
dbSNP (RS) rs2037418959 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IFT43 CLINVAR
OMIM 614068 CLINVAR