RGD:126733453 Rat Genome Database

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Variant: RGD:126733453 -  Homo sapiens

RGD ID: 126733453
RS ID: rs763400849
ClinVar ID: CV1033632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887891  NHERF1  SLC9A3R1-AS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 72,745,233
GRCh38 17 74,749,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013022.1:g.5471T>G
NC_000017.11:g.74749094T>G
NC_000017.10:g.72745233T>G
NP_004243.1:p.Leu83Arg
More... 		09/01/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NHERF1
Accession:NM_004252
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIR
AARNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKG
PSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFK
KCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPI
LDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL*

Gene Symbol:SLC9A3R1-AS1
Accession:NR_187307
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001349782 CLINVAR
dbSNP (RS) rs763400849 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC9A3R1 CLINVAR
  SLC9A3R1-AS1 CLINVAR
OMIM 604990 CLINVAR