RGD:11663281 Rat Genome Database

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Variant: RGD:11663281 -  Homo sapiens

RGD ID: 11663281
RS ID: rs549032453
ClinVar ID: CV316832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 12,709,640
GRCh38 9 12,709,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000550.3:c.*458A>G
NG_011705.1:g.21255A>G
NC_000009.12:g.12709640A>G
NC_000009.11:g.12709640A>G
More...
06/14/2016 3 prime utr variant uncertain significance Albinism 3; ALBINISM III; Albinism, oculocutaneous, type III; Rufous albinism; Rufous OCA; Rufous oculocutaneous albinism; Xanthism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:NM_000550
Location:3UTRS;EXON

Gene Symbol:TYRP1
Accession:XM_047423841
Location:INTRON

Gene Symbol:LURAP1L-AS1
Accession:NR_125775
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000394515 CLINVAR
dbSNP (RS) rs549032453 CLINVAR
MedGen C0342683 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR
  203290 CLINVAR
SNOMED CT 63450009 CLINVAR