RGD:8654794 Rat Genome Database

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Variant: RGD:8654794 -  Homo sapiens

RGD ID: 8654794
RS ID: rs63750467
ClinVar ID: CV30878
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA1  LOC106804613  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 227,361
GRCh38 16 177,362
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_000006.1:g.38225A>T
NC_000016.10:g.177362A>T
NC_000016.9:g.227361A>T
NP_000549.1:p.Asp127Val
More... 		07/20/2016 missense variant other

Variant Details
Variant Transcripts
Gene Symbol:HBA1
Accession:NM_000558
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLVKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:2079432  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017184 CLINVAR
dbSNP (RS) rs63750467 CLINVAR
NCBI Gene 106804613 CLINVAR
  HBA1 CLINVAR
OMIM 141800 CLINVAR
OMIM Allele 141800.0163 CLINVAR