RGD:15170050 Rat Genome Database

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Variant: RGD:15170050 -  Homo sapiens

RGD ID: 15170050
RS ID: rs1412411797
ClinVar ID: CV757389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC24A3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 19,634,759
GRCh38 20 19,654,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020689.4:c.666G>C
NC_000020.11:g.19654115G>C
NP_065740.2:p.Leu222=
NC_000020.10:g.19634759G>C
More... 		06/21/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC24A3
Accession:NM_020689
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGEDRKWMMARKLMQVNDTLTSEDAG
LRNSKNCTEPALHEFPNDIFTNEDRRQGAVVLHVLCAIYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSS
APELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVIALIVFIYDEKVSWWE
SLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEIDDSSNCDATVVLLKKANFHRKASVIMVDELLSAYP
HQLSFSEAGLRIMITSHFPPKTRLSMASRMLINERQRLINSRAYTNGESEVAIKIPIKHTVENGTGPSSAPDRGVNGTRR
DDVVAEAGNETENENEDNENDEEEEEDEDDDEGPYTPFDTPSGKLETVKWAFTWPLSFVLYFTVPNCNKPRWEKWFMVTF
ASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLP
WALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLLLYGVFLCFSIMTEFNVFTFVNLPM
CGDH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000927621 CLINVAR
dbSNP (RS) rs1412411797 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC24A3 CLINVAR
OMIM 609839 CLINVAR