rs36041021 Rat Genome Database

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Variant: rs36041021 -  Homo sapiens

RGD ID: 13788523
RS ID: rs36041021
ClinVar ID: CV550032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFER  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,035,907
GRCh38 16 1,985,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016288.1:g.6758T>C
NC_000016.10:g.1985906T>C
NC_000016.9:g.2035907T>C
NP_005253.3:p.Phe166Leu
More... 		01/31/2024 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GFER
Accession:NM_005262
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPGERGRFHGGNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSPVAEDASRRRPCRACVDFKTW
MRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDLPTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDT
RTRACLTQWLCHLHNEVNRKLGKPDFDCSKVDERWRDGWKDGSCD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000676339 CLINVAR
dbSNP (RS) rs36041021 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GFER CLINVAR
OMIM 600924 CLINVAR