RGD:8566624 Rat Genome Database

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Variant: RGD:8566624 -  Homo sapiens

RGD ID: 8566624
RS ID: rs78166690
ClinVar ID: CV33237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 74,280,879
GRCh38 4 73,415,162
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.15908A>G
NC_000004.12:g.73415162A>G
NC_000004.11:g.74280879A>G
NP_000468.1:p.Lys396Glu
More... 		06/06/2012 missense|missense variant other

Variant Details
Variant Transcripts
Gene Symbol:ALB
Accession:NM_000477
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 396
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPFEDHVKLVNEVTEFAKTCVAD
ESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEPERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLK
KYLYEIARRHPYFYAPELLFFAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAV
ARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICENQDSISSKLKECCEKPLLEKSHCIAEVEND
EMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYARRHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAEVFDE
FKPLVEEPQNLIKQNCELFEQLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVV
LNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTLSEKERQIKKQTALVELVKHK
PKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLVAASQAALGL*
Variant Samples
Additional References at PubMed
PMID:3474609   PMID:6933567  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019844 CLINVAR
dbSNP (RS) rs78166690 CLINVAR
NCBI Gene ALB CLINVAR
OMIM 103600 CLINVAR
OMIM Allele 103600.0015 CLINVAR