RGD:8621516 Rat Genome Database

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Variant: RGD:8621516 -  Homo sapiens

RGD ID: 8621516
RS ID: rs387907538
ClinVar ID: CV75490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NHERF1  SLC9A3R1-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 72,745,018
GRCh38 17 74,748,879
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.5256G>T
NC_000017.11:g.74748879G>T
NC_000017.10:g.72745018G>T
NP_004243.1:p.Leu11=
More... 		500b downstream variant|synonymous variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NHERF1
Accession:NM_004252
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIR
AALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKG
PSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFK
KCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPI
LDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000054712 CLINVAR
dbSNP (RS) rs387907538 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC9A3R1 CLINVAR
  SLC9A3R1-AS1 CLINVAR
OMIM 604990 CLINVAR