TYRP1 tyrosinase related protein 1

Information
Symbol
TYRP1
Type
protein-coding
Description
tyrosinase related protein 1
Entrez Gene ID
7306
Genome
hg19
Position
chr9:12,693,385-12,710,285
Genome
hg38
Position
chr9:12,693,385-12,710,285
MIM
115501 OMIM
HGNC
HGNC:12450 HGNC
Ensembl
ENSG00000107165 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 118
Likely pathogenic 0 44
Benign 0 46
Likely benign 0 478
Conflicting classifications of pathogenicity 0 48
Uncertain significance 0 516
Ranking
ClinVar
0
0
124
1,046
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CAS2
SYNONYM CATB
SYNONYM GP75
SYNONYM OCA3
SYNONYM TRP
SYNONYM TRP1
SYNONYM TYRP
SYNONYM b-PROTEIN
MIM 115501 OMIM
HGNC HGNC:12450 HGNC
Ensembl ENSG00000107165 Ensembl
AllianceGenome HGNC:12450
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000388918.10 hg38 chr9 12,693,385 12,710,285 16,901
ENST00000381136.2 hg38 chr9 12,695,720 12,709,235 13,516
ENST00000388918.10 hg19 chr9 12,693,385 12,710,285 16,901
ENST00000381136.2 hg19 chr9 12,695,720 12,709,235 13,516
Genome browser