RGD:15040203 Rat Genome Database

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Variant: RGD:15040203 -  Homo sapiens

RGD ID: 15040203
RS ID: rs562047
ClinVar ID: CV682504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPA1A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 31,783,863
GRCh38 6 31,816,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.31816086G>C
NC_000006.11:g.31783863G>C
NM_005345.6:c.330G>C
NG_011855.1:g.3973C>G
More...
08/04/2019 missense variant association Chronic pulmonary obstruction
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HSPA1A
Accession:NM_005345
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKAAAIGIDLGTTYSCVGVFQHGKVEIIANDQGNRTTPSYVAFTDTERLIGDAAKNQVALNPQNTVFDAKRLIGRKFGD
PVVQSDMKHWPFQVINDGDKPKVQVSYKGDTKAFYPEEISSMVLTKMKEIAEAYLGYPVTNAVITVPAYFNDSQRQATKD
AGVIAGLNVLRIINEPTAAAIAYGLDRTGKGERNVLIFDLGGGTFDVSILTIDDGIFEVKATAGDTHLGGEDFDNRLVNH
FVEEFKRKHKKDISQNKRAVRRLRTACERAKRTLSSSTQASLEIDSLFEGIDFYTSITRARFEELCSDLFRSTLEPVEKA
LRDAKLDKAQIHDLVLVGGSTRIPKVQKLLQDFFNGRDLNKSINPDEAVAYGAAVQAAILMGDKSENVQDLLLLDVAPLS
LGLETAGGVMTALIKRNSTIPTKQTQIFTTYSDNQPGVLIQVYEGERAMTKDNNLLGRFELSGIPPAPRGVPQIEVTFDI
DANGILNVTATDKSTGKANKITITNDKGRLSKEEIERMVQEAEKYKAEDEVQRERVSAKNALESYAFNMKSAVEDEGLKG
KISEADKKKVLDKCQEVISWLDANTLAEKDEFEHKRKELEQVCNPIISGLYQGAGGPGPGGFGAQGPKGGSGSGPTIEEV
D*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000856574 CLINVAR
dbSNP (RS) rs562047 CLINVAR
MedGen C0024117 CLINVAR
NCBI Gene HSPA1A CLINVAR
OMIM 140550 CLINVAR
  606963 CLINVAR