RGD:405134802 Rat Genome Database

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Variant: RGD:405134802 -  Homo sapiens

RGD ID: 405134802
ClinVar ID: CV2957960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887891  NHERF1  SLC9A3R1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 72,745,240
GRCh38 17 74,749,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004252.5:c.255C>T
NG_137513.1:g.136C>T
NG_013022.1:g.5478C>T
NC_000017.11:g.74749101C>T
More... 		05/27/2022 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NHERF1
Accession:NM_004252
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 85
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003672720 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NHERF1 CLINVAR
  SLC9A3R1-AS1 CLINVAR
OMIM 604990 CLINVAR