rs9474477 Rat Genome Database

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Variant: rs9474477 -  Homo sapiens

RGD ID: 150462591
RS ID: rs9474477
ClinVar ID: CV1276102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 53,159,233
GRCh38 6 53,294,435
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242831.2:c.115C>T
NM_001242828.2:c.58+1207C>T
NM_001242830.2:c.58+1207C>T
NM_001301856.2:c.58+1207C>T
More... 		05/12/2021 intron variant benign ELOVL5-related condition; none provided

Variant Details
Variant Transcripts
Gene Symbol:ELOVL5
Accession:NM_001242831
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHFDASLSTYFKALLGPRGISSSVLRMGPPLHTVVGWLQQLQAAHSEEEEKMFHLCGFKHKEVVSQSSLPAVIPQNSLA
TIASHAPA*

Gene Symbol:ELOVL5
Accession:NM_001242828
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_001242830
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_021814
Location:INTRON

Gene Symbol:ELOVL5
Accession:NM_001301856
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001710047 CLINVAR
  RCV003968496 CLINVAR
dbSNP (RS) rs9474477 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ELOVL5 CLINVAR
OMIM 611805 CLINVAR