MC5R melanocortin 5 receptor

Information
Symbol
MC5R
Type
protein-coding
Description
melanocortin 5 receptor
Entrez Gene ID
4161
Genome
hg19
Position
chr18:13,824,148-13,827,322
Genome
hg38
Position
chr18:13,824,149-13,827,323
MIM
600042 OMIM
HGNC
HGNC:6933 HGNC
Ensembl
ENSG00000176136 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
38
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 MC2
MIM 600042 OMIM
HGNC HGNC:6933 HGNC
Ensembl ENSG00000176136 Ensembl
AllianceGenome HGNC:6933
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000589410.2 hg38 chr18 13,824,149 13,827,323 3,175
ENST00000324750.5 hg38 chr18 13,825,544 13,826,862 1,319
ENST00000589410.2 hg19 chr18 13,824,148 13,827,322 3,175
ENST00000324750.5 hg19 chr18 13,825,543 13,826,861 1,319
Genome browser