rs184175319 Rat Genome Database

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Variant: rs184175319 -  Homo sapiens

RGD ID: 150419078
RS ID: rs184175319
ClinVar ID: CV1195789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAS2  LOC108663984  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 55,052,201
GRCh38 X 55,025,768
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1163t1:c.181+52A>G
NM_000032.5:c.181+52A>G
NM_001037967.4:c.181+52A>G
NM_001037968.4:c.253+52A>G
More... 		08/15/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ALAS2
Accession:NM_001037968
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_000032
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_001037967
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001569519 CLINVAR
dbSNP (RS) rs184175319 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALAS2 CLINVAR
  LOC108663984 CLINVAR
OMIM 301300 CLINVAR