rs1211156689 Rat Genome Database

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Variant: rs1211156689 -  Homo sapiens

RGD ID: 150337216
RS ID: rs1211156689
ClinVar ID: CV1166393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCF4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 37,271,980
GRCh38 22 36,875,938
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000631.5:c.759-91G>C
NM_013416.4:c.913G>C
LRG_159:g.19951G>C
NG_023400.1:g.19951G>C
More... 		02/01/2021 intron variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Variant Details
Variant Transcripts
Gene Symbol:NCF4
Accession:NM_013416
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSS
ALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSV
SPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKSVAWEGGACPAFLPSLRPLPLTSPSHGSLSHSKAPSGSQMSHNAVTSHQRPRWPGQPHSPFPHPTPH
FQPDASLLQPVTPLGTSRWRKISAALPY*

Gene Symbol:NCF4
Accession:NM_000631
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441385
Location:INTRON

Gene Symbol:NCF4
Accession:XM_047441384
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001532466 CLINVAR
dbSNP (RS) rs1211156689 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NCF4 CLINVAR
OMIM 601488 CLINVAR