RGD:8566662 Rat Genome Database

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Variant: RGD:8566662 -  Homo sapiens

RGD ID: 8566662
RS ID: rs80259813
ClinVar ID: CV33275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 74,283,883
GRCh38 4 73,418,166
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009291.1:g.18912G>A
NC_000004.12:g.73418166G>A
NC_000004.11:g.74283883G>A
NP_000468.1:p.Glu503Lys
More... 		07/18/2019 missense|missense variant other

Variant Details
Variant Transcripts
Gene Symbol:ALB
Accession:NM_000477
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 503
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVAD
ESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLK
KYLYEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAV
ARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICENQDSISSKLKECCEKPLLEKSHCIAEVEND
EMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFDE
FKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVV
LNQLCVLHEKTPVSDRVTKCCTKSLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHK
PKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLVAASQAALGL*
Variant Samples
Additional References at PubMed
PMID:1819460  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019897 CLINVAR
dbSNP (RS) rs80259813 CLINVAR
NCBI Gene ALB CLINVAR
OMIM 103600 CLINVAR
OMIM Allele 103600.0053 CLINVAR