RGD:8654741 Rat Genome Database

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Variant: RGD:8654741 -  Homo sapiens

RGD ID: 8654741
RS ID: rs63749934
ClinVar ID: CV30709
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBA2  LOC106804612  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 223,195
GRCh38 16 173,196
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.34059T>C
NC_000016.10:g.173196T>C
NC_000016.9:g.223195T>C
NP_000508.1:p.Val56Ala
More... 		03/28/2013 missense variant other

Variant Details
Variant Transcripts
Gene Symbol:HBA2
Accession:NM_000517
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQAKGHGKKVADALTNAVAHVDDMPNA
LSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR*
Variant Samples
Additional References at PubMed
PMID:11791875  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000016956 CLINVAR
dbSNP (RS) rs63749934 CLINVAR
NCBI Gene 106804612 CLINVAR
  HBA2 CLINVAR
OMIM 141850 CLINVAR
OMIM Allele 141850.0046 CLINVAR